Canonical Allele Identifier: CA415172966
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031203C>G , CM000685.2:g.154031203C>G GRCh38
NC_000023.10:g.153296654C>G , CM000685.1:g.153296654C>G GRCh37
NC_000023.9:g.152949848C>G NCBI36
NG_007107.2:g.110925G>C
NG_007107.3:g.110901G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.625G>C MANE Plus Clinical ENSP00000301948.6:p.Val209Leu
ENST00000453960.7:c.661G>C MANE Select ENSP00000395535.2:p.Val221Leu
ENST00000637917.1:c.65+193G>C
ENST00000303391.10:c.625G>C ENSP00000301948.6:p.Val209Leu
ENST00000407218.5:c.552G>C ENSP00000384865.2:p.Arg184Ser
ENST00000453960.6:c.661G>C ENSP00000395535.2:p.Val221Leu
ENST00000619732.4:c.625G>C ENSP00000480973.1:p.Val209Leu
ENST00000622433.4:c.613G>C ENSP00000484470.1:p.Val205Leu
ENST00000628176.2:c.516G>C ENSP00000486978.1:p.Arg172Ser
NM_001110792.1:c.661G>C NP_001104262.1:p.Val221Leu
NM_001316337.1:c.346G>C NP_001303266.1:p.Val116Leu
NM_004992.3:c.625G>C NP_004983.1:p.Val209Leu
XM_005274681.3:c.625G>C XP_005274738.1:p.Val209Leu
XM_005274682.3:c.346G>C XP_005274739.1:p.Val116Leu
XM_005274683.3:c.346G>C XP_005274740.1:p.Val116Leu
XM_006724819.2:c.-45G>C XP_006724882.1:n.-45G>C
XM_011531166.1:c.346G>C XP_011529468.1:p.Val116Leu
XM_006724819.3:c.-45G>C XP_006724882.1:n.-45G>C
XM_011531166.2:c.346G>C XP_011529468.1:p.Val116Leu
XM_024452383.1:c.346G>C XP_024308151.1:p.Val116Leu
XM_024452384.1:c.346G>C XP_024308152.1:p.Val116Leu
NM_001110792.2:c.661G>C MANE Select NP_001104262.1:p.Val221Leu
NM_001316337.2:c.346G>C NP_001303266.1:p.Val116Leu
NM_001369391.2:c.346G>C NP_001356320.1:p.Val116Leu
NM_001369392.2:c.346G>C NP_001356321.1:p.Val116Leu
NM_001369393.2:c.346G>C NP_001356322.1:p.Val116Leu
NM_001369394.1:c.346G>C NP_001356323.1:p.Val116Leu
NM_001369394.2:c.346G>C NP_001356323.1:p.Val116Leu
NM_001386137.1:c.-45G>C NP_001373066.1:n.-45G>C
NM_001386138.1:c.-45G>C NP_001373067.1:n.-45G>C
NM_001386139.1:c.-45G>C NP_001373068.1:n.-45G>C
NM_004992.4:c.625G>C MANE Plus Clinical NP_004983.1:p.Val209Leu