Canonical Allele Identifier: CA2695105448

Gene: MECP2

Linked Data

• gnomAD v4: X-154097666-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097666T>G , CM000685.2:g.154097666T>G	GRCh38
NC_000023.10:g.153363123T>G , CM000685.1:g.153363123T>G	GRCh37
NC_000023.9:g.153016317T>G	NCBI36
NG_007107.2:g.44456A>C
NG_007107.3:g.44438A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-161A>C MANE Plus Clinical	ENSP00000301948.6:n.-161A>C
ENST00000453960.7:c.-1A>C MANE Select	ENSP00000395535.2:n.-1A>C
ENST00000303391.10:c.-161A>C	ENSP00000301948.6:n.-161A>C
ENST00000407218.5:c.-1A>C	ENSP00000384865.2:n.-1A>C
ENST00000453960.6:c.-1A>C	ENSP00000395535.2:n.-1A>C
ENST00000619732.4:c.-161A>C	ENSP00000480973.1:n.-161A>C
ENST00000627864.1:n.15A>C
ENST00000628176.2:c.-161A>C	ENSP00000486978.1:n.-161A>C
ENST00000631210.1:n.305+7115A>C
NM_001110792.1:c.-1A>C	NP_001104262.1:n.-1A>C
NM_001316337.1:c.-608A>C	NP_001303266.1:n.-608A>C
NM_004992.3:c.-161A>C	NP_004983.1:n.-161A>C
XM_005274682.3:c.-552A>C	XP_005274739.1:n.-552A>C
NM_001110792.2:c.-1A>C MANE Select	NP_001104262.1:n.-1A>C
NM_001316337.2:c.-608A>C	NP_001303266.1:n.-608A>C
NM_001369391.2:c.-903A>C	NP_001356320.1:n.-903A>C
NM_001369392.2:c.-552A>C	NP_001356321.1:n.-552A>C
NM_001369393.2:c.-428A>C	NP_001356322.1:n.-428A>C
NM_001386137.1:c.-833A>C	NP_001373066.1:n.-833A>C
NM_001386138.1:c.-721A>C	NP_001373067.1:n.-721A>C
NM_001386139.1:c.-597A>C	NP_001373068.1:n.-597A>C
NM_004992.4:c.-161A>C MANE Plus Clinical	NP_004983.1:n.-161A>C