Canonical Allele Identifier: CA199472

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143441
• ClinVar RCV Id: RCV000132967 ; RCV000170106 ; RCV000169933 ; RCV001057731
• dbSNP Id: rs61753965
• gnomAD v4: X-154030612-G-A
• MyVariant Identifiers: chrX:g.153296063G>A (hg19) ; chrX:g.154030612G>A (hg38)
• PubMed: PMID:10986043 ; PMID:14560307 ; PMID:22476991

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030612G>A , CM000685.2:g.154030612G>A	GRCh38
NC_000023.10:g.153296063G>A , CM000685.1:g.153296063G>A	GRCh37
NC_000023.9:g.152949257G>A	NCBI36
NG_007107.2:g.111516C>T
NG_007107.3:g.111492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1216C>T MANE Plus Clinical	ENSP00000301948.6:p.Gln406Ter
ENST00000453960.7:c.1252C>T MANE Select	ENSP00000395535.2:p.Gln418Ter
ENST00000303391.10:c.1216C>T	ENSP00000301948.6:p.Gln406Ter
ENST00000407218.5:c.*588C>T	ENSP00000384865.2:n.*588C>T
ENST00000453960.6:c.1252C>T	ENSP00000395535.2:p.Gln418Ter
ENST00000619732.4:c.1216C>T	ENSP00000480973.1:p.Gln406Ter
ENST00000628176.2:c.*588C>T	ENSP00000486978.1:n.*588C>T
NM_001110792.1:c.1252C>T	NP_001104262.1:p.Gln418Ter
NM_001316337.1:c.937C>T	NP_001303266.1:p.Gln313Ter
NM_004992.3:c.1216C>T	NP_004983.1:p.Gln406Ter
XM_005274681.3:c.1216C>T	XP_005274738.1:p.Gln406Ter
XM_005274682.3:c.937C>T	XP_005274739.1:p.Gln313Ter
XM_005274683.3:c.937C>T	XP_005274740.1:p.Gln313Ter
XM_006724819.2:c.547C>T	XP_006724882.1:p.Gln183Ter
XM_011531166.1:c.937C>T	XP_011529468.1:p.Gln313Ter
XM_006724819.3:c.547C>T	XP_006724882.1:p.Gln183Ter
XM_011531166.2:c.937C>T	XP_011529468.1:p.Gln313Ter
XM_024452383.1:c.937C>T	XP_024308151.1:p.Gln313Ter
XM_024452384.1:c.937C>T	XP_024308152.1:p.Gln313Ter
NM_001110792.2:c.1252C>T MANE Select	NP_001104262.1:p.Gln418Ter
NM_001316337.2:c.937C>T	NP_001303266.1:p.Gln313Ter
NM_001369391.2:c.937C>T	NP_001356320.1:p.Gln313Ter
NM_001369392.2:c.937C>T	NP_001356321.1:p.Gln313Ter
NM_001369393.2:c.937C>T	NP_001356322.1:p.Gln313Ter
NM_001369394.1:c.937C>T	NP_001356323.1:p.Gln313Ter
NM_001369394.2:c.937C>T	NP_001356323.1:p.Gln313Ter
NM_001386137.1:c.547C>T	NP_001373066.1:p.Gln183Ter
NM_001386138.1:c.547C>T	NP_001373067.1:p.Gln183Ter
NM_001386139.1:c.547C>T	NP_001373068.1:p.Gln183Ter
NM_004992.4:c.1216C>T MANE Plus Clinical	NP_004983.1:p.Gln406Ter