Canonical Allele Identifier: CA519704578
Gene: MECP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153295868T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030417T>G , CM000685.2:g.154030417T>G GRCh38
NC_000023.10:g.153295868T>G , CM000685.1:g.153295868T>G GRCh37
NC_000023.9:g.152949062T>G NCBI36
NG_007107.2:g.111711A>C
NG_007107.3:g.111687A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1411A>C MANE Plus Clinical ENSP00000301948.6:p.Arg471=
ENST00000453960.7:c.1447A>C MANE Select ENSP00000395535.2:p.Arg483=
ENST00000303391.10:c.1411A>C ENSP00000301948.6:p.Arg471=
ENST00000453960.6:c.1447A>C ENSP00000395535.2:p.Arg483=
ENST00000619732.4:c.1411A>C ENSP00000480973.1:p.Arg471=
ENST00000628176.2:c.*783A>C ENSP00000486978.1:n.*783A>C
NM_001110792.1:c.1447A>C NP_001104262.1:p.Arg483=
NM_001316337.1:c.1132A>C NP_001303266.1:p.Arg378=
NM_004992.3:c.1411A>C NP_004983.1:p.Arg471=
XM_005274681.3:c.1411A>C XP_005274738.1:p.Arg471=
XM_005274682.3:c.1132A>C XP_005274739.1:p.Arg378=
XM_005274683.3:c.1132A>C XP_005274740.1:p.Arg378=
XM_006724819.2:c.742A>C XP_006724882.1:p.Arg248=
XM_011531166.1:c.1132A>C XP_011529468.1:p.Arg378=
XM_006724819.3:c.742A>C XP_006724882.1:p.Arg248=
XM_011531166.2:c.1132A>C XP_011529468.1:p.Arg378=
XM_024452383.1:c.1132A>C XP_024308151.1:p.Arg378=
XM_024452384.1:c.1132A>C XP_024308152.1:p.Arg378=
NM_001110792.2:c.1447A>C MANE Select NP_001104262.1:p.Arg483=
NM_001316337.2:c.1132A>C NP_001303266.1:p.Arg378=
NM_001369391.2:c.1132A>C NP_001356320.1:p.Arg378=
NM_001369392.2:c.1132A>C NP_001356321.1:p.Arg378=
NM_001369393.2:c.1132A>C NP_001356322.1:p.Arg378=
NM_001369394.1:c.1132A>C NP_001356323.1:p.Arg378=
NM_001369394.2:c.1132A>C NP_001356323.1:p.Arg378=
NM_001386137.1:c.742A>C NP_001373066.1:p.Arg248=
NM_001386138.1:c.742A>C NP_001373067.1:p.Arg248=
NM_001386139.1:c.742A>C NP_001373068.1:p.Arg248=
NM_004992.4:c.1411A>C MANE Plus Clinical NP_004983.1:p.Arg471=
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