Canonical Allele Identifier: CA415178357

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153297926C>G (hg19) ; chrX:g.154032475C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032475C>G , CM000685.2:g.154032475C>G	GRCh38
NC_000023.10:g.153297926C>G , CM000685.1:g.153297926C>G	GRCh37
NC_000023.9:g.152951120C>G	NCBI36
NG_007107.2:g.109653G>C
NG_007107.3:g.109629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.109G>C MANE Plus Clinical	ENSP00000301948.6:p.Glu37Gln
ENST00000453960.7:c.145G>C MANE Select	ENSP00000395535.2:p.Glu49Gln
ENST00000611468.2:n.357G>C
ENST00000630151.2:c.109G>C	ENSP00000486089.1:p.Glu37Gln
ENST00000637533.1:n.140G>C
ENST00000676382.1:n.302G>C
ENST00000303391.10:c.109G>C	ENSP00000301948.6:p.Glu37Gln
ENST00000369957.5:c.*163G>C	ENSP00000358973.4:n.*163G>C
ENST00000407218.5:c.145G>C	ENSP00000384865.2:p.Glu49Gln
ENST00000415944.3:c.109G>C	ENSP00000416267.1:p.Glu37Gln
ENST00000453960.6:c.145G>C	ENSP00000395535.2:p.Glu49Gln
ENST00000460227.4:n.1258G>C
ENST00000463644.5:n.1048G>C
ENST00000481807.3:n.395G>C
ENST00000486506.5:n.2457G>C
ENST00000488293.4:n.1158G>C
ENST00000496908.5:n.240G>C
ENST00000611468.1:c.97G>C	ENSP00000479736.1:p.Glu33Gln
ENST00000619732.4:c.109G>C	ENSP00000480973.1:p.Glu37Gln
ENST00000622433.4:c.97G>C	ENSP00000484470.1:p.Glu33Gln
ENST00000625300.1:n.334G>C
ENST00000626422.2:n.819G>C
ENST00000628176.2:c.109G>C	ENSP00000486978.1:p.Glu37Gln
ENST00000630151.1:c.109G>C	ENSP00000486089.1:p.Glu37Gln
ENST00000631210.1:n.388G>C
NM_001110792.1:c.145G>C	NP_001104262.1:p.Glu49Gln
NM_001316337.1:c.-171G>C	NP_001303266.1:n.-171G>C
NM_004992.3:c.109G>C	NP_004983.1:p.Glu37Gln
XM_005274681.3:c.109G>C	XP_005274738.1:p.Glu37Gln
XM_005274682.3:c.-171G>C	XP_005274739.1:n.-171G>C
XM_005274683.3:c.-171G>C	XP_005274740.1:n.-171G>C
XM_011531166.1:c.-171G>C	XP_011529468.1:n.-171G>C
XM_006724819.3:c.-452G>C	XP_006724882.1:n.-452G>C
XM_011531166.2:c.-171G>C	XP_011529468.1:n.-171G>C
XM_024452383.1:c.-171G>C	XP_024308151.1:n.-171G>C
XM_024452384.1:c.-171G>C	XP_024308152.1:n.-171G>C
NM_001110792.2:c.145G>C MANE Select	NP_001104262.1:p.Glu49Gln
NM_001316337.2:c.-171G>C	NP_001303266.1:n.-171G>C
NM_001369391.2:c.-171G>C	NP_001356320.1:n.-171G>C
NM_001369392.2:c.-171G>C	NP_001356321.1:n.-171G>C
NM_001369393.2:c.-171G>C	NP_001356322.1:n.-171G>C
NM_001369394.1:c.-171G>C	NP_001356323.1:n.-171G>C
NM_001369394.2:c.-171G>C	NP_001356323.1:n.-171G>C
NM_001386137.1:c.-452G>C	NP_001373066.1:n.-452G>C
NM_001386138.1:c.-452G>C	NP_001373067.1:n.-452G>C
NM_001386139.1:c.-452G>C	NP_001373068.1:n.-452G>C
NM_004992.4:c.109G>C MANE Plus Clinical	NP_004983.1:p.Glu37Gln