Canonical Allele Identifier: CA415174739

Gene: MECP2

Linked Data

• ClinVar Variation Id: 444834
• ClinVar RCV Id: RCV000512893 ; RCV000991004
• dbSNP Id: rs1557137042
• MyVariant Identifiers: chrX:g.153296828C>A (hg19) ; chrX:g.154031377C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031377C>A , CM000685.2:g.154031377C>A	GRCh38
NC_000023.10:g.153296828C>A , CM000685.1:g.153296828C>A	GRCh37
NC_000023.9:g.152950022C>A	NCBI36
NG_007107.2:g.110751G>T
NG_007107.3:g.110727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.451G>T MANE Plus Clinical	ENSP00000301948.6:p.Asp151Tyr
ENST00000453960.7:c.487G>T MANE Select	ENSP00000395535.2:p.Asp163Tyr
ENST00000637917.1:c.65+19G>T
ENST00000303391.10:c.451G>T	ENSP00000301948.6:p.Asp151Tyr
ENST00000369957.5:c.*505G>T	ENSP00000358973.4:n.*505G>T
ENST00000407218.5:c.468+19G>T	ENSP00000384865.2:n.468+19G>T
ENST00000453960.6:c.487G>T	ENSP00000395535.2:p.Asp163Tyr
ENST00000486506.5:n.2799G>T
ENST00000611468.1:c.439G>T	ENSP00000479736.1:p.Asp147Tyr
ENST00000619732.4:c.451G>T	ENSP00000480973.1:p.Asp151Tyr
ENST00000622433.4:c.439G>T	ENSP00000484470.1:p.Asp147Tyr
ENST00000628176.2:c.432+19G>T	ENSP00000486978.1:n.432+19G>T
NM_001110792.1:c.487G>T	NP_001104262.1:p.Asp163Tyr
NM_001316337.1:c.172G>T	NP_001303266.1:p.Asp58Tyr
NM_004992.3:c.451G>T	NP_004983.1:p.Asp151Tyr
XM_005274681.3:c.451G>T	XP_005274738.1:p.Asp151Tyr
XM_005274682.3:c.172G>T	XP_005274739.1:p.Asp58Tyr
XM_005274683.3:c.172G>T	XP_005274740.1:p.Asp58Tyr
XM_006724819.2:c.-129+19G>T	XP_006724882.1:n.-129+19G>T
XM_011531166.1:c.172G>T	XP_011529468.1:p.Asp58Tyr
XM_006724819.3:c.-129+19G>T	XP_006724882.1:n.-129+19G>T
XM_011531166.2:c.172G>T	XP_011529468.1:p.Asp58Tyr
XM_024452383.1:c.172G>T	XP_024308151.1:p.Asp58Tyr
XM_024452384.1:c.172G>T	XP_024308152.1:p.Asp58Tyr
NM_001110792.2:c.487G>T MANE Select	NP_001104262.1:p.Asp163Tyr
NM_001316337.2:c.172G>T	NP_001303266.1:p.Asp58Tyr
NM_001369391.2:c.172G>T	NP_001356320.1:p.Asp58Tyr
NM_001369392.2:c.172G>T	NP_001356321.1:p.Asp58Tyr
NM_001369393.2:c.172G>T	NP_001356322.1:p.Asp58Tyr
NM_001369394.1:c.172G>T	NP_001356323.1:p.Asp58Tyr
NM_001369394.2:c.172G>T	NP_001356323.1:p.Asp58Tyr
NM_001386137.1:c.-129+19G>T	NP_001373066.1:n.-129+19G>T
NM_001386138.1:c.-129+19G>T	NP_001373067.1:n.-129+19G>T
NM_001386139.1:c.-129+19G>T	NP_001373068.1:n.-129+19G>T
NM_004992.4:c.451G>T MANE Plus Clinical	NP_004983.1:p.Asp151Tyr