Canonical Allele Identifier: CA232991

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143652
• ClinVar RCV Id: RCV000133192 ; RCV000193090
• dbSNP Id: rs267608513
• MyVariant Identifiers: chrX:g.153296606G>T (hg19) ; chrX:g.154031155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031155G>T , CM000685.2:g.154031155G>T	GRCh38
NC_000023.10:g.153296606G>T , CM000685.1:g.153296606G>T	GRCh37
NC_000023.9:g.152949800G>T	NCBI36
NG_007107.2:g.110973C>A
NG_007107.3:g.110949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.673C>A MANE Plus Clinical	ENSP00000301948.6:p.Pro225Thr
ENST00000453960.7:c.709C>A MANE Select	ENSP00000395535.2:p.Pro237Thr
ENST00000637917.1:c.66-219C>A
ENST00000303391.10:c.673C>A	ENSP00000301948.6:p.Pro225Thr
ENST00000407218.5:c.*45C>A	ENSP00000384865.2:n.*45C>A
ENST00000453960.6:c.709C>A	ENSP00000395535.2:p.Pro237Thr
ENST00000619732.4:c.673C>A	ENSP00000480973.1:p.Pro225Thr
ENST00000622433.4:c.661C>A	ENSP00000484470.1:p.Pro221Thr
ENST00000628176.2:c.*45C>A	ENSP00000486978.1:n.*45C>A
NM_001110792.1:c.709C>A	NP_001104262.1:p.Pro237Thr
NM_001316337.1:c.394C>A	NP_001303266.1:p.Pro132Thr
NM_004992.3:c.673C>A	NP_004983.1:p.Pro225Thr
XM_005274681.3:c.673C>A	XP_005274738.1:p.Pro225Thr
XM_005274682.3:c.394C>A	XP_005274739.1:p.Pro132Thr
XM_005274683.3:c.394C>A	XP_005274740.1:p.Pro132Thr
XM_006724819.2:c.4C>A	XP_006724882.1:p.Pro2Thr
XM_011531166.1:c.394C>A	XP_011529468.1:p.Pro132Thr
XM_006724819.3:c.4C>A	XP_006724882.1:p.Pro2Thr
XM_011531166.2:c.394C>A	XP_011529468.1:p.Pro132Thr
XM_024452383.1:c.394C>A	XP_024308151.1:p.Pro132Thr
XM_024452384.1:c.394C>A	XP_024308152.1:p.Pro132Thr
NM_001110792.2:c.709C>A MANE Select	NP_001104262.1:p.Pro237Thr
NM_001316337.2:c.394C>A	NP_001303266.1:p.Pro132Thr
NM_001369391.2:c.394C>A	NP_001356320.1:p.Pro132Thr
NM_001369392.2:c.394C>A	NP_001356321.1:p.Pro132Thr
NM_001369393.2:c.394C>A	NP_001356322.1:p.Pro132Thr
NM_001369394.1:c.394C>A	NP_001356323.1:p.Pro132Thr
NM_001369394.2:c.394C>A	NP_001356323.1:p.Pro132Thr
NM_001386137.1:c.4C>A	NP_001373066.1:p.Pro2Thr
NM_001386138.1:c.4C>A	NP_001373067.1:p.Pro2Thr
NM_001386139.1:c.4C>A	NP_001373068.1:p.Pro2Thr
NM_004992.4:c.673C>A MANE Plus Clinical	NP_004983.1:p.Pro225Thr