Canonical Allele Identifier: CA2579736917

Gene: MECP2

Linked Data

• gnomAD v4: X-154097549-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097549T>G , CM000685.2:g.154097549T>G	GRCh38
NC_000023.10:g.153363006T>G , CM000685.1:g.153363006T>G	GRCh37
NC_000023.9:g.153016200T>G	NCBI36
NG_007107.2:g.44573A>C
NG_007107.3:g.44555A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.22+55A>C
ENST00000303391.11:c.-99+55A>C MANE Plus Clinical	ENSP00000301948.6:n.-99+55A>C
ENST00000453960.7:c.62+55A>C MANE Select	ENSP00000395535.2:n.62+55A>C
ENST00000676382.1:n.22+55A>C
ENST00000303391.10:c.-99+55A>C	ENSP00000301948.6:n.-99+55A>C
ENST00000369957.5:c.-99+55A>C	ENSP00000358973.4:n.-99+55A>C
ENST00000407218.5:c.62+55A>C	ENSP00000384865.2:n.62+55A>C
ENST00000453960.6:c.62+55A>C	ENSP00000395535.2:n.62+55A>C
ENST00000619732.4:c.-99+55A>C	ENSP00000480973.1:n.-99+55A>C
ENST00000627864.1:n.77+55A>C
ENST00000628176.2:c.-99+55A>C	ENSP00000486978.1:n.-99+55A>C
ENST00000631210.1:n.305+7232A>C
NM_001110792.1:c.62+55A>C	NP_001104262.1:n.62+55A>C
NM_001316337.1:c.-546+55A>C	NP_001303266.1:n.-546+55A>C
NM_004992.3:c.-99+55A>C	NP_004983.1:n.-99+55A>C
XM_005274682.3:c.-490+55A>C	XP_005274739.1:n.-490+55A>C
NM_001110792.2:c.62+55A>C MANE Select	NP_001104262.1:n.62+55A>C
NM_001316337.2:c.-546+55A>C	NP_001303266.1:n.-546+55A>C
NM_001369391.2:c.-841+55A>C	NP_001356320.1:n.-841+55A>C
NM_001369392.2:c.-490+55A>C	NP_001356321.1:n.-490+55A>C
NM_001369393.2:c.-366+55A>C	NP_001356322.1:n.-366+55A>C
NM_001386137.1:c.-771+55A>C	NP_001373066.1:n.-771+55A>C
NM_001386138.1:c.-659+55A>C	NP_001373067.1:n.-659+55A>C
NM_001386139.1:c.-535+55A>C	NP_001373068.1:n.-535+55A>C
NM_004992.4:c.-99+55A>C MANE Plus Clinical	NP_004983.1:n.-99+55A>C