Canonical Allele Identifier: CA270454

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143604
• ClinVar RCV Id: RCV000133144 ; RCV001219355
• dbSNP Id: rs61748425
• MyVariant Identifiers: chrX:g.153296771G>A (hg19) ; chrX:g.154031320G>A (hg38)
• PubMed: PMID:11055898 ; PMID:11241840 ; PMID:11245712 ; PMID:11738864 ; PMID:12180070 ; PMID:15737703 ; PMID:16473305

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031320G>A , CM000685.2:g.154031320G>A	GRCh38
NC_000023.10:g.153296771G>A , CM000685.1:g.153296771G>A	GRCh37
NC_000023.9:g.152949965G>A	NCBI36
NG_007107.2:g.110808C>T
NG_007107.3:g.110784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.508C>T MANE Plus Clinical	ENSP00000301948.6:p.Gln170Ter
ENST00000453960.7:c.544C>T MANE Select	ENSP00000395535.2:p.Gln182Ter
ENST00000637917.1:c.65+76C>T
ENST00000303391.10:c.508C>T	ENSP00000301948.6:p.Gln170Ter
ENST00000407218.5:c.469-34C>T	ENSP00000384865.2:n.469-34C>T
ENST00000453960.6:c.544C>T	ENSP00000395535.2:p.Gln182Ter
ENST00000486506.5:n.2856C>T
ENST00000611468.1:c.494C>T	ENSP00000479736.1:p.Ala165Val
ENST00000619732.4:c.508C>T	ENSP00000480973.1:p.Gln170Ter
ENST00000622433.4:c.496C>T	ENSP00000484470.1:p.Gln166Ter
ENST00000628176.2:c.433-34C>T	ENSP00000486978.1:n.433-34C>T
NM_001110792.1:c.544C>T	NP_001104262.1:p.Gln182Ter
NM_001316337.1:c.229C>T	NP_001303266.1:p.Gln77Ter
NM_004992.3:c.508C>T	NP_004983.1:p.Gln170Ter
XM_005274681.3:c.508C>T	XP_005274738.1:p.Gln170Ter
XM_005274682.3:c.229C>T	XP_005274739.1:p.Gln77Ter
XM_005274683.3:c.229C>T	XP_005274740.1:p.Gln77Ter
XM_006724819.2:c.-128-34C>T	XP_006724882.1:n.-128-34C>T
XM_011531166.1:c.229C>T	XP_011529468.1:p.Gln77Ter
XM_006724819.3:c.-128-34C>T	XP_006724882.1:n.-128-34C>T
XM_011531166.2:c.229C>T	XP_011529468.1:p.Gln77Ter
XM_024452383.1:c.229C>T	XP_024308151.1:p.Gln77Ter
XM_024452384.1:c.229C>T	XP_024308152.1:p.Gln77Ter
NM_001110792.2:c.544C>T MANE Select	NP_001104262.1:p.Gln182Ter
NM_001316337.2:c.229C>T	NP_001303266.1:p.Gln77Ter
NM_001369391.2:c.229C>T	NP_001356320.1:p.Gln77Ter
NM_001369392.2:c.229C>T	NP_001356321.1:p.Gln77Ter
NM_001369393.2:c.229C>T	NP_001356322.1:p.Gln77Ter
NM_001369394.1:c.229C>T	NP_001356323.1:p.Gln77Ter
NM_001369394.2:c.229C>T	NP_001356323.1:p.Gln77Ter
NM_001386137.1:c.-128-34C>T	NP_001373066.1:n.-128-34C>T
NM_001386138.1:c.-128-34C>T	NP_001373067.1:n.-128-34C>T
NM_001386139.1:c.-128-34C>T	NP_001373068.1:n.-128-34C>T
NM_004992.4:c.508C>T MANE Plus Clinical	NP_004983.1:p.Gln170Ter