Canonical Allele Identifier: CA232983

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143613
• ClinVar RCV Id: RCV000133153
• dbSNP Id: rs61749702
• MyVariant Identifiers: chrX:g.153296750T>A (hg19) ; chrX:g.154031299T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031299T>A , CM000685.2:g.154031299T>A	GRCh38
NC_000023.10:g.153296750T>A , CM000685.1:g.153296750T>A	GRCh37
NC_000023.9:g.152949944T>A	NCBI36
NG_007107.2:g.110829A>T
NG_007107.3:g.110805A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.529A>T MANE Plus Clinical	ENSP00000301948.6:p.Lys177Ter
ENST00000453960.7:c.565A>T MANE Select	ENSP00000395535.2:p.Lys189Ter
ENST00000637917.1:c.65+97A>T
ENST00000303391.10:c.529A>T	ENSP00000301948.6:p.Lys177Ter
ENST00000407218.5:c.469-13A>T	ENSP00000384865.2:n.469-13A>T
ENST00000453960.6:c.565A>T	ENSP00000395535.2:p.Lys189Ter
ENST00000486506.5:n.2877A>T
ENST00000619732.4:c.529A>T	ENSP00000480973.1:p.Lys177Ter
ENST00000622433.4:c.517A>T	ENSP00000484470.1:p.Lys173Ter
ENST00000628176.2:c.433-13A>T	ENSP00000486978.1:n.433-13A>T
NM_001110792.1:c.565A>T	NP_001104262.1:p.Lys189Ter
NM_001316337.1:c.250A>T	NP_001303266.1:p.Lys84Ter
NM_004992.3:c.529A>T	NP_004983.1:p.Lys177Ter
XM_005274681.3:c.529A>T	XP_005274738.1:p.Lys177Ter
XM_005274682.3:c.250A>T	XP_005274739.1:p.Lys84Ter
XM_005274683.3:c.250A>T	XP_005274740.1:p.Lys84Ter
XM_006724819.2:c.-128-13A>T	XP_006724882.1:n.-128-13A>T
XM_011531166.1:c.250A>T	XP_011529468.1:p.Lys84Ter
XM_006724819.3:c.-128-13A>T	XP_006724882.1:n.-128-13A>T
XM_011531166.2:c.250A>T	XP_011529468.1:p.Lys84Ter
XM_024452383.1:c.250A>T	XP_024308151.1:p.Lys84Ter
XM_024452384.1:c.250A>T	XP_024308152.1:p.Lys84Ter
NM_001110792.2:c.565A>T MANE Select	NP_001104262.1:p.Lys189Ter
NM_001316337.2:c.250A>T	NP_001303266.1:p.Lys84Ter
NM_001369391.2:c.250A>T	NP_001356320.1:p.Lys84Ter
NM_001369392.2:c.250A>T	NP_001356321.1:p.Lys84Ter
NM_001369393.2:c.250A>T	NP_001356322.1:p.Lys84Ter
NM_001369394.1:c.250A>T	NP_001356323.1:p.Lys84Ter
NM_001369394.2:c.250A>T	NP_001356323.1:p.Lys84Ter
NM_001386137.1:c.-128-13A>T	NP_001373066.1:n.-128-13A>T
NM_001386138.1:c.-128-13A>T	NP_001373067.1:n.-128-13A>T
NM_001386139.1:c.-128-13A>T	NP_001373068.1:n.-128-13A>T
NM_004992.4:c.529A>T MANE Plus Clinical	NP_004983.1:p.Lys177Ter