Canonical Allele Identifier: CA415176470
Gene: MECP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153297670A>C (hg19) chrX:g.154032219A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032219A>C , CM000685.2:g.154032219A>C GRCh38
NC_000023.10:g.153297670A>C , CM000685.1:g.153297670A>C GRCh37
NC_000023.9:g.152950864A>C NCBI36
NG_007107.2:g.109909T>G
NG_007107.3:g.109885T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.365T>G MANE Plus Clinical ENSP00000301948.6:p.Val122Gly
ENST00000453960.7:c.401T>G MANE Select ENSP00000395535.2:p.Val134Gly
ENST00000303391.10:c.365T>G ENSP00000301948.6:p.Val122Gly
ENST00000369957.5:c.*419T>G ENSP00000358973.4:n.*419T>G
ENST00000407218.5:c.401T>G ENSP00000384865.2:p.Val134Gly
ENST00000453960.6:c.401T>G ENSP00000395535.2:p.Val134Gly
ENST00000486506.5:n.2713T>G
ENST00000611468.1:c.353T>G ENSP00000479736.1:p.Val118Gly
ENST00000619732.4:c.365T>G ENSP00000480973.1:p.Val122Gly
ENST00000622433.4:c.353T>G ENSP00000484470.1:p.Val118Gly
ENST00000628176.2:c.365T>G ENSP00000486978.1:p.Val122Gly
NM_001110792.1:c.401T>G NP_001104262.1:p.Val134Gly
NM_001316337.1:c.86T>G NP_001303266.1:p.Val29Gly
NM_004992.3:c.365T>G NP_004983.1:p.Val122Gly
XM_005274681.3:c.365T>G XP_005274738.1:p.Val122Gly
XM_005274682.3:c.86T>G XP_005274739.1:p.Val29Gly
XM_005274683.3:c.86T>G XP_005274740.1:p.Val29Gly
XM_006724819.2:c.-196T>G XP_006724882.1:n.-196T>G
XM_011531166.1:c.86T>G XP_011529468.1:p.Val29Gly
XM_006724819.3:c.-196T>G XP_006724882.1:n.-196T>G
XM_011531166.2:c.86T>G XP_011529468.1:p.Val29Gly
XM_024452383.1:c.86T>G XP_024308151.1:p.Val29Gly
XM_024452384.1:c.86T>G XP_024308152.1:p.Val29Gly
NM_001110792.2:c.401T>G MANE Select NP_001104262.1:p.Val134Gly
NM_001316337.2:c.86T>G NP_001303266.1:p.Val29Gly
NM_001369391.2:c.86T>G NP_001356320.1:p.Val29Gly
NM_001369392.2:c.86T>G NP_001356321.1:p.Val29Gly
NM_001369393.2:c.86T>G NP_001356322.1:p.Val29Gly
NM_001369394.1:c.86T>G NP_001356323.1:p.Val29Gly
NM_001369394.2:c.86T>G NP_001356323.1:p.Val29Gly
NM_001386137.1:c.-196T>G NP_001373066.1:n.-196T>G
NM_001386138.1:c.-196T>G NP_001373067.1:n.-196T>G
NM_001386139.1:c.-196T>G NP_001373068.1:n.-196T>G
NM_004992.4:c.365T>G MANE Plus Clinical NP_004983.1:p.Val122Gly
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