Canonical Allele Identifier: CA415174112
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573814
ClinVar RCV Id: RCV003318150
MyVariant Identifiers: chrX:g.153296776C>G (hg19) chrX:g.154031325C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031325C>G , CM000685.2:g.154031325C>G GRCh38
NC_000023.10:g.153296776C>G , CM000685.1:g.153296776C>G GRCh37
NC_000023.9:g.152949970C>G NCBI36
NG_007107.2:g.110803G>C
NG_007107.3:g.110779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.503G>C MANE Plus Clinical ENSP00000301948.6:p.Arg168Pro
ENST00000453960.7:c.539G>C MANE Select ENSP00000395535.2:p.Arg180Pro
ENST00000637917.1:c.65+71G>C
ENST00000303391.10:c.503G>C ENSP00000301948.6:p.Arg168Pro
ENST00000407218.5:c.469-39G>C ENSP00000384865.2:n.469-39G>C
ENST00000453960.6:c.539G>C ENSP00000395535.2:p.Arg180Pro
ENST00000486506.5:n.2851G>C
ENST00000611468.1:c.489G>C ENSP00000479736.1:p.Ala163=
ENST00000619732.4:c.503G>C ENSP00000480973.1:p.Arg168Pro
ENST00000622433.4:c.491G>C ENSP00000484470.1:p.Arg164Pro
ENST00000628176.2:c.433-39G>C ENSP00000486978.1:n.433-39G>C
NM_001110792.1:c.539G>C NP_001104262.1:p.Arg180Pro
NM_001316337.1:c.224G>C NP_001303266.1:p.Arg75Pro
NM_004992.3:c.503G>C NP_004983.1:p.Arg168Pro
XM_005274681.3:c.503G>C XP_005274738.1:p.Arg168Pro
XM_005274682.3:c.224G>C XP_005274739.1:p.Arg75Pro
XM_005274683.3:c.224G>C XP_005274740.1:p.Arg75Pro
XM_006724819.2:c.-128-39G>C XP_006724882.1:n.-128-39G>C
XM_011531166.1:c.224G>C XP_011529468.1:p.Arg75Pro
XM_006724819.3:c.-128-39G>C XP_006724882.1:n.-128-39G>C
XM_011531166.2:c.224G>C XP_011529468.1:p.Arg75Pro
XM_024452383.1:c.224G>C XP_024308151.1:p.Arg75Pro
XM_024452384.1:c.224G>C XP_024308152.1:p.Arg75Pro
NM_001110792.2:c.539G>C MANE Select NP_001104262.1:p.Arg180Pro
NM_001316337.2:c.224G>C NP_001303266.1:p.Arg75Pro
NM_001369391.2:c.224G>C NP_001356320.1:p.Arg75Pro
NM_001369392.2:c.224G>C NP_001356321.1:p.Arg75Pro
NM_001369393.2:c.224G>C NP_001356322.1:p.Arg75Pro
NM_001369394.1:c.224G>C NP_001356323.1:p.Arg75Pro
NM_001369394.2:c.224G>C NP_001356323.1:p.Arg75Pro
NM_001386137.1:c.-128-39G>C NP_001373066.1:n.-128-39G>C
NM_001386138.1:c.-128-39G>C NP_001373067.1:n.-128-39G>C
NM_001386139.1:c.-128-39G>C NP_001373068.1:n.-128-39G>C
NM_004992.4:c.503G>C MANE Plus Clinical NP_004983.1:p.Arg168Pro
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