Canonical Allele Identifier: CA198822

Gene: MECP2

Linked Data

• ClinVar Variation Id: 11835
• ClinVar RCV Id: RCV000012608 ; RCV000498874
• dbSNP Id: rs28935168
• MyVariant Identifiers: chrX:g.153297737G>C (hg19) ; chrX:g.154032286G>C (hg38)
• ERepo: CA198822/MONDO:0010726/016
• PubMed: PMID:11055898 ; PMID:11913567 ; PMID:12966522 ; PMID:16672765 ; PMID:22476991

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032286G>C , CM000685.2:g.154032286G>C	GRCh38
NC_000023.10:g.153297737G>C , CM000685.1:g.153297737G>C	GRCh37
NC_000023.9:g.152950931G>C	NCBI36
NG_007107.2:g.109842C>G
NG_007107.3:g.109818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.298C>G MANE Plus Clinical	ENSP00000301948.6:p.Leu100Val
ENST00000453960.7:c.334C>G MANE Select	ENSP00000395535.2:p.Leu112Val
ENST00000303391.10:c.298C>G	ENSP00000301948.6:p.Leu100Val
ENST00000369957.5:c.*352C>G	ENSP00000358973.4:n.*352C>G
ENST00000407218.5:c.334C>G	ENSP00000384865.2:p.Leu112Val
ENST00000453960.6:c.334C>G	ENSP00000395535.2:p.Leu112Val
ENST00000486506.5:n.2646C>G
ENST00000611468.1:c.286C>G	ENSP00000479736.1:p.Leu96Val
ENST00000619732.4:c.298C>G	ENSP00000480973.1:p.Leu100Val
ENST00000622433.4:c.286C>G	ENSP00000484470.1:p.Leu96Val
ENST00000628176.2:c.298C>G	ENSP00000486978.1:p.Leu100Val
NM_001110792.1:c.334C>G	NP_001104262.1:p.Leu112Val
NM_001316337.1:c.19C>G	NP_001303266.1:p.Leu7Val
NM_004992.3:c.298C>G	NP_004983.1:p.Leu100Val
XM_005274681.3:c.298C>G	XP_005274738.1:p.Leu100Val
XM_005274682.3:c.19C>G	XP_005274739.1:p.Leu7Val
XM_005274683.3:c.19C>G	XP_005274740.1:p.Leu7Val
XM_011531166.1:c.19C>G	XP_011529468.1:p.Leu7Val
XM_006724819.3:c.-263C>G	XP_006724882.1:n.-263C>G
XM_011531166.2:c.19C>G	XP_011529468.1:p.Leu7Val
XM_024452383.1:c.19C>G	XP_024308151.1:p.Leu7Val
XM_024452384.1:c.19C>G	XP_024308152.1:p.Leu7Val
NM_001110792.2:c.334C>G MANE Select	NP_001104262.1:p.Leu112Val
NM_001316337.2:c.19C>G	NP_001303266.1:p.Leu7Val
NM_001369391.2:c.19C>G	NP_001356320.1:p.Leu7Val
NM_001369392.2:c.19C>G	NP_001356321.1:p.Leu7Val
NM_001369393.2:c.19C>G	NP_001356322.1:p.Leu7Val
NM_001369394.1:c.19C>G	NP_001356323.1:p.Leu7Val
NM_001369394.2:c.19C>G	NP_001356323.1:p.Leu7Val
NM_001386137.1:c.-263C>G	NP_001373066.1:n.-263C>G
NM_001386138.1:c.-263C>G	NP_001373067.1:n.-263C>G
NM_001386139.1:c.-263C>G	NP_001373068.1:n.-263C>G
NM_004992.4:c.298C>G MANE Plus Clinical	NP_004983.1:p.Leu100Val