Canonical Allele Identifier: CA337261111

Gene: MECP2

Linked Data

• dbSNP Id: rs935511117
• gnomAD v2: X-153295263-A-G
• gnomAD v3: X-154029812-A-G
• gnomAD v4: X-154029812-A-G
• MyVariant Identifiers: chrX:g.153295263A>G (hg19) ; chrX:g.154029812A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154029812A>G , CM000685.2:g.154029812A>G	GRCh38
NC_000023.10:g.153295263A>G , CM000685.1:g.153295263A>G	GRCh37
NC_000023.9:g.152948457A>G	NCBI36
NG_007107.2:g.112316T>C
NG_007107.3:g.112292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.*555T>C MANE Plus Clinical	ENSP00000301948.6:n.*555T>C
ENST00000453960.7:c.*555T>C MANE Select	ENSP00000395535.2:n.*555T>C
ENST00000303391.10:c.*555T>C	ENSP00000301948.6:n.*555T>C
ENST00000619732.4:c.*482T>C	ENSP00000480973.1:n.*482T>C
NM_004992.3:c.*555T>C	NP_004983.1:n.*555T>C
XM_005274681.3:c.*555T>C	XP_005274738.1:n.*555T>C
XM_005274682.3:c.*555T>C	XP_005274739.1:n.*555T>C
XM_005274683.3:c.*555T>C	XP_005274740.1:n.*555T>C
XM_006724819.2:c.*555T>C	XP_006724882.1:n.*555T>C
XM_011531166.1:c.*555T>C	XP_011529468.1:n.*555T>C
XM_006724819.3:c.*555T>C	XP_006724882.1:n.*555T>C
XM_011531166.2:c.*555T>C	XP_011529468.1:n.*555T>C
XM_024452383.1:c.*555T>C	XP_024308151.1:n.*555T>C
XM_024452384.1:c.*555T>C	XP_024308152.1:n.*555T>C
NM_001110792.2:c.*555T>C MANE Select	NP_001104262.1:n.*555T>C
NM_001316337.2:c.*555T>C	NP_001303266.1:n.*555T>C
NM_001369391.2:c.*555T>C	NP_001356320.1:n.*555T>C
NM_001369392.2:c.*555T>C	NP_001356321.1:n.*555T>C
NM_001369393.2:c.*555T>C	NP_001356322.1:n.*555T>C
NM_001369394.2:c.*555T>C	NP_001356323.1:n.*555T>C
NM_001386137.1:c.*555T>C	NP_001373066.1:n.*555T>C
NM_001386138.1:c.*555T>C	NP_001373067.1:n.*555T>C
NM_001386139.1:c.*555T>C	NP_001373068.1:n.*555T>C
NM_004992.4:c.*555T>C MANE Plus Clinical	NP_004983.1:n.*555T>C