Canonical Allele Identifier: CA270435

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143589
• ClinVar RCV Id: RCV000133127 ; RCV001385711
• dbSNP Id: rs267608484
• MyVariant Identifiers: chrX:g.153296808G>C (hg19) ; chrX:g.154031357G>C (hg38)
• ERepo: CA270435/MONDO:0010726/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031357G>C , CM000685.2:g.154031357G>C	GRCh38
NC_000023.10:g.153296808G>C , CM000685.1:g.153296808G>C	GRCh37
NC_000023.9:g.152950002G>C	NCBI36
NG_007107.2:g.110771C>G
NG_007107.3:g.110747C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.471C>G MANE Plus Clinical	ENSP00000301948.6:p.Phe157Leu
ENST00000453960.7:c.507C>G MANE Select	ENSP00000395535.2:p.Phe169Leu
ENST00000637917.1:c.65+39C>G
ENST00000303391.10:c.471C>G	ENSP00000301948.6:p.Phe157Leu
ENST00000407218.5:c.468+39C>G	ENSP00000384865.2:n.468+39C>G
ENST00000453960.6:c.507C>G	ENSP00000395535.2:p.Phe169Leu
ENST00000486506.5:n.2819C>G
ENST00000611468.1:c.459C>G	ENSP00000479736.1:p.Phe153Leu
ENST00000619732.4:c.471C>G	ENSP00000480973.1:p.Phe157Leu
ENST00000622433.4:c.459C>G	ENSP00000484470.1:p.Phe153Leu
ENST00000628176.2:c.432+39C>G	ENSP00000486978.1:n.432+39C>G
NM_001110792.1:c.507C>G	NP_001104262.1:p.Phe169Leu
NM_001316337.1:c.192C>G	NP_001303266.1:p.Phe64Leu
NM_004992.3:c.471C>G	NP_004983.1:p.Phe157Leu
XM_005274681.3:c.471C>G	XP_005274738.1:p.Phe157Leu
XM_005274682.3:c.192C>G	XP_005274739.1:p.Phe64Leu
XM_005274683.3:c.192C>G	XP_005274740.1:p.Phe64Leu
XM_006724819.2:c.-129+39C>G	XP_006724882.1:n.-129+39C>G
XM_011531166.1:c.192C>G	XP_011529468.1:p.Phe64Leu
XM_006724819.3:c.-129+39C>G	XP_006724882.1:n.-129+39C>G
XM_011531166.2:c.192C>G	XP_011529468.1:p.Phe64Leu
XM_024452383.1:c.192C>G	XP_024308151.1:p.Phe64Leu
XM_024452384.1:c.192C>G	XP_024308152.1:p.Phe64Leu
NM_001110792.2:c.507C>G MANE Select	NP_001104262.1:p.Phe169Leu
NM_001316337.2:c.192C>G	NP_001303266.1:p.Phe64Leu
NM_001369391.2:c.192C>G	NP_001356320.1:p.Phe64Leu
NM_001369392.2:c.192C>G	NP_001356321.1:p.Phe64Leu
NM_001369393.2:c.192C>G	NP_001356322.1:p.Phe64Leu
NM_001369394.1:c.192C>G	NP_001356323.1:p.Phe64Leu
NM_001369394.2:c.192C>G	NP_001356323.1:p.Phe64Leu
NM_001386137.1:c.-129+39C>G	NP_001373066.1:n.-129+39C>G
NM_001386138.1:c.-129+39C>G	NP_001373067.1:n.-129+39C>G
NM_001386139.1:c.-129+39C>G	NP_001373068.1:n.-129+39C>G
NM_004992.4:c.471C>G MANE Plus Clinical	NP_004983.1:p.Phe157Leu