Canonical Allele Identifier: CA415172685

Gene: MECP2

Linked Data

• gnomAD v4: X-154031152-A-G
• MyVariant Identifiers: chrX:g.153296603A>G (hg19) ; chrX:g.154031152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031152A>G , CM000685.2:g.154031152A>G	GRCh38
NC_000023.10:g.153296603A>G , CM000685.1:g.153296603A>G	GRCh37
NC_000023.9:g.152949797A>G	NCBI36
NG_007107.2:g.110976T>C
NG_007107.3:g.110952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.676T>C MANE Plus Clinical	ENSP00000301948.6:p.Phe226Leu
ENST00000453960.7:c.712T>C MANE Select	ENSP00000395535.2:p.Phe238Leu
ENST00000637917.1:c.66-216T>C
ENST00000303391.10:c.676T>C	ENSP00000301948.6:p.Phe226Leu
ENST00000407218.5:c.*48T>C	ENSP00000384865.2:n.*48T>C
ENST00000453960.6:c.712T>C	ENSP00000395535.2:p.Phe238Leu
ENST00000619732.4:c.676T>C	ENSP00000480973.1:p.Phe226Leu
ENST00000622433.4:c.664T>C	ENSP00000484470.1:p.Phe222Leu
ENST00000628176.2:c.*48T>C	ENSP00000486978.1:n.*48T>C
NM_001110792.1:c.712T>C	NP_001104262.1:p.Phe238Leu
NM_001316337.1:c.397T>C	NP_001303266.1:p.Phe133Leu
NM_004992.3:c.676T>C	NP_004983.1:p.Phe226Leu
XM_005274681.3:c.676T>C	XP_005274738.1:p.Phe226Leu
XM_005274682.3:c.397T>C	XP_005274739.1:p.Phe133Leu
XM_005274683.3:c.397T>C	XP_005274740.1:p.Phe133Leu
XM_006724819.2:c.7T>C	XP_006724882.1:p.Phe3Leu
XM_011531166.1:c.397T>C	XP_011529468.1:p.Phe133Leu
XM_006724819.3:c.7T>C	XP_006724882.1:p.Phe3Leu
XM_011531166.2:c.397T>C	XP_011529468.1:p.Phe133Leu
XM_024452383.1:c.397T>C	XP_024308151.1:p.Phe133Leu
XM_024452384.1:c.397T>C	XP_024308152.1:p.Phe133Leu
NM_001110792.2:c.712T>C MANE Select	NP_001104262.1:p.Phe238Leu
NM_001316337.2:c.397T>C	NP_001303266.1:p.Phe133Leu
NM_001369391.2:c.397T>C	NP_001356320.1:p.Phe133Leu
NM_001369392.2:c.397T>C	NP_001356321.1:p.Phe133Leu
NM_001369393.2:c.397T>C	NP_001356322.1:p.Phe133Leu
NM_001369394.1:c.397T>C	NP_001356323.1:p.Phe133Leu
NM_001369394.2:c.397T>C	NP_001356323.1:p.Phe133Leu
NM_001386137.1:c.7T>C	NP_001373066.1:p.Phe3Leu
NM_001386138.1:c.7T>C	NP_001373067.1:p.Phe3Leu
NM_001386139.1:c.7T>C	NP_001373068.1:p.Phe3Leu
NM_004992.4:c.676T>C MANE Plus Clinical	NP_004983.1:p.Phe226Leu