Canonical Allele Identifier: CA415178041

Gene: MECP2

Linked Data

• dbSNP Id: rs587783134
• gnomAD v4: X-154032448-C-A
• MyVariant Identifiers: chrX:g.153297899C>A (hg19) ; chrX:g.154032448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032448C>A , CM000685.2:g.154032448C>A	GRCh38
NC_000023.10:g.153297899C>A , CM000685.1:g.153297899C>A	GRCh37
NC_000023.9:g.152951093C>A	NCBI36
NG_007107.2:g.109680G>T
NG_007107.3:g.109656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.136G>T MANE Plus Clinical	ENSP00000301948.6:p.Val46Leu
ENST00000453960.7:c.172G>T MANE Select	ENSP00000395535.2:p.Val58Leu
ENST00000303391.10:c.136G>T	ENSP00000301948.6:p.Val46Leu
ENST00000369957.5:c.*190G>T	ENSP00000358973.4:n.*190G>T
ENST00000407218.5:c.172G>T	ENSP00000384865.2:p.Val58Leu
ENST00000415944.3:c.136G>T	ENSP00000416267.1:p.Val46Leu
ENST00000453960.6:c.172G>T	ENSP00000395535.2:p.Val58Leu
ENST00000460227.4:n.1285G>T
ENST00000463644.5:n.1075G>T
ENST00000481807.3:n.422G>T
ENST00000486506.5:n.2484G>T
ENST00000488293.4:n.1185G>T
ENST00000496908.5:n.267G>T
ENST00000611468.1:c.124G>T	ENSP00000479736.1:p.Val42Leu
ENST00000619732.4:c.136G>T	ENSP00000480973.1:p.Val46Leu
ENST00000622433.4:c.124G>T	ENSP00000484470.1:p.Val42Leu
ENST00000628176.2:c.136G>T	ENSP00000486978.1:p.Val46Leu
ENST00000631210.1:n.415G>T
NM_001110792.1:c.172G>T	NP_001104262.1:p.Val58Leu
NM_001316337.1:c.-144G>T	NP_001303266.1:n.-144G>T
NM_004992.3:c.136G>T	NP_004983.1:p.Val46Leu
XM_005274681.3:c.136G>T	XP_005274738.1:p.Val46Leu
XM_005274682.3:c.-144G>T	XP_005274739.1:n.-144G>T
XM_005274683.3:c.-144G>T	XP_005274740.1:n.-144G>T
XM_011531166.1:c.-144G>T	XP_011529468.1:n.-144G>T
XM_006724819.3:c.-425G>T	XP_006724882.1:n.-425G>T
XM_011531166.2:c.-144G>T	XP_011529468.1:n.-144G>T
XM_024452383.1:c.-144G>T	XP_024308151.1:n.-144G>T
XM_024452384.1:c.-144G>T	XP_024308152.1:n.-144G>T
NM_001110792.2:c.172G>T MANE Select	NP_001104262.1:p.Val58Leu
NM_001316337.2:c.-144G>T	NP_001303266.1:n.-144G>T
NM_001369391.2:c.-144G>T	NP_001356320.1:n.-144G>T
NM_001369392.2:c.-144G>T	NP_001356321.1:n.-144G>T
NM_001369393.2:c.-144G>T	NP_001356322.1:n.-144G>T
NM_001369394.1:c.-144G>T	NP_001356323.1:n.-144G>T
NM_001369394.2:c.-144G>T	NP_001356323.1:n.-144G>T
NM_001386137.1:c.-425G>T	NP_001373066.1:n.-425G>T
NM_001386138.1:c.-425G>T	NP_001373067.1:n.-425G>T
NM_001386139.1:c.-425G>T	NP_001373068.1:n.-425G>T
NM_004992.4:c.136G>T MANE Plus Clinical	NP_004983.1:p.Val46Leu