Canonical Allele Identifier: CA415178253

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153297918T>A (hg19) ; chrX:g.154032467T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032467T>A , CM000685.2:g.154032467T>A	GRCh38
NC_000023.10:g.153297918T>A , CM000685.1:g.153297918T>A	GRCh37
NC_000023.9:g.152951112T>A	NCBI36
NG_007107.2:g.109661A>T
NG_007107.3:g.109637A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.117A>T MANE Plus Clinical	ENSP00000301948.6:p.Lys39Asn
ENST00000453960.7:c.153A>T MANE Select	ENSP00000395535.2:p.Lys51Asn
ENST00000611468.2:n.365A>T
ENST00000630151.2:c.117A>T	ENSP00000486089.1:p.Lys39Asn
ENST00000676382.1:n.310A>T
ENST00000303391.10:c.117A>T	ENSP00000301948.6:p.Lys39Asn
ENST00000369957.5:c.*171A>T	ENSP00000358973.4:n.*171A>T
ENST00000407218.5:c.153A>T	ENSP00000384865.2:p.Lys51Asn
ENST00000415944.3:c.117A>T	ENSP00000416267.1:p.Lys39Asn
ENST00000453960.6:c.153A>T	ENSP00000395535.2:p.Lys51Asn
ENST00000460227.4:n.1266A>T
ENST00000463644.5:n.1056A>T
ENST00000481807.3:n.403A>T
ENST00000486506.5:n.2465A>T
ENST00000488293.4:n.1166A>T
ENST00000496908.5:n.248A>T
ENST00000611468.1:c.105A>T	ENSP00000479736.1:p.Lys35Asn
ENST00000619732.4:c.117A>T	ENSP00000480973.1:p.Lys39Asn
ENST00000622433.4:c.105A>T	ENSP00000484470.1:p.Lys35Asn
ENST00000625300.1:n.342A>T
ENST00000626422.2:n.827A>T
ENST00000628176.2:c.117A>T	ENSP00000486978.1:p.Lys39Asn
ENST00000630151.1:c.117A>T	ENSP00000486089.1:p.Lys39Asn
ENST00000631210.1:n.396A>T
NM_001110792.1:c.153A>T	NP_001104262.1:p.Lys51Asn
NM_001316337.1:c.-163A>T	NP_001303266.1:n.-163A>T
NM_004992.3:c.117A>T	NP_004983.1:p.Lys39Asn
XM_005274681.3:c.117A>T	XP_005274738.1:p.Lys39Asn
XM_005274682.3:c.-163A>T	XP_005274739.1:n.-163A>T
XM_005274683.3:c.-163A>T	XP_005274740.1:n.-163A>T
XM_011531166.1:c.-163A>T	XP_011529468.1:n.-163A>T
XM_006724819.3:c.-444A>T	XP_006724882.1:n.-444A>T
XM_011531166.2:c.-163A>T	XP_011529468.1:n.-163A>T
XM_024452383.1:c.-163A>T	XP_024308151.1:n.-163A>T
XM_024452384.1:c.-163A>T	XP_024308152.1:n.-163A>T
NM_001110792.2:c.153A>T MANE Select	NP_001104262.1:p.Lys51Asn
NM_001316337.2:c.-163A>T	NP_001303266.1:n.-163A>T
NM_001369391.2:c.-163A>T	NP_001356320.1:n.-163A>T
NM_001369392.2:c.-163A>T	NP_001356321.1:n.-163A>T
NM_001369393.2:c.-163A>T	NP_001356322.1:n.-163A>T
NM_001369394.1:c.-163A>T	NP_001356323.1:n.-163A>T
NM_001369394.2:c.-163A>T	NP_001356323.1:n.-163A>T
NM_001386137.1:c.-444A>T	NP_001373066.1:n.-444A>T
NM_001386138.1:c.-444A>T	NP_001373067.1:n.-444A>T
NM_001386139.1:c.-444A>T	NP_001373068.1:n.-444A>T
NM_004992.4:c.117A>T MANE Plus Clinical	NP_004983.1:p.Lys39Asn