Canonical Allele Identifier: CA415173307

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153296700C>G (hg19) ; chrX:g.154031249C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031249C>G , CM000685.2:g.154031249C>G	GRCh38
NC_000023.10:g.153296700C>G , CM000685.1:g.153296700C>G	GRCh37
NC_000023.9:g.152949894C>G	NCBI36
NG_007107.2:g.110879G>C
NG_007107.3:g.110855G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.579G>C MANE Plus Clinical	ENSP00000301948.6:p.Gly193=
ENST00000453960.7:c.615G>C MANE Select	ENSP00000395535.2:p.Gly205=
ENST00000637917.1:c.65+147G>C
ENST00000303391.10:c.579G>C	ENSP00000301948.6:p.Gly193=
ENST00000407218.5:c.506G>C	ENSP00000384865.2:p.Gly169Ala
ENST00000453960.6:c.615G>C	ENSP00000395535.2:p.Gly205=
ENST00000619732.4:c.579G>C	ENSP00000480973.1:p.Gly193=
ENST00000622433.4:c.567G>C	ENSP00000484470.1:p.Gly189=
ENST00000628176.2:c.470G>C	ENSP00000486978.1:p.Gly157Ala
NM_001110792.1:c.615G>C	NP_001104262.1:p.Gly205=
NM_001316337.1:c.300G>C	NP_001303266.1:p.Gly100=
NM_004992.3:c.579G>C	NP_004983.1:p.Gly193=
XM_005274681.3:c.579G>C	XP_005274738.1:p.Gly193=
XM_005274682.3:c.300G>C	XP_005274739.1:p.Gly100=
XM_005274683.3:c.300G>C	XP_005274740.1:p.Gly100=
XM_006724819.2:c.-91G>C	XP_006724882.1:n.-91G>C
XM_011531166.1:c.300G>C	XP_011529468.1:p.Gly100=
XM_006724819.3:c.-91G>C	XP_006724882.1:n.-91G>C
XM_011531166.2:c.300G>C	XP_011529468.1:p.Gly100=
XM_024452383.1:c.300G>C	XP_024308151.1:p.Gly100=
XM_024452384.1:c.300G>C	XP_024308152.1:p.Gly100=
NM_001110792.2:c.615G>C MANE Select	NP_001104262.1:p.Gly205=
NM_001316337.2:c.300G>C	NP_001303266.1:p.Gly100=
NM_001369391.2:c.300G>C	NP_001356320.1:p.Gly100=
NM_001369392.2:c.300G>C	NP_001356321.1:p.Gly100=
NM_001369393.2:c.300G>C	NP_001356322.1:p.Gly100=
NM_001369394.1:c.300G>C	NP_001356323.1:p.Gly100=
NM_001369394.2:c.300G>C	NP_001356323.1:p.Gly100=
NM_001386137.1:c.-91G>C	NP_001373066.1:n.-91G>C
NM_001386138.1:c.-91G>C	NP_001373067.1:n.-91G>C
NM_001386139.1:c.-91G>C	NP_001373068.1:n.-91G>C
NM_004992.4:c.579G>C MANE Plus Clinical	NP_004983.1:p.Gly193=