Canonical Allele Identifier: CA379371267

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413209T>C (hg19) ; chr11:g.6391979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391979T>C , CM000673.2:g.6391979T>C	GRCh38
NC_000011.9:g.6413209T>C , CM000673.1:g.6413209T>C	GRCh37
NC_000011.8:g.6369785T>C	NCBI36
NG_011780.1:g.6555T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.914T>C MANE Select	ENSP00000340409.4:p.Val305Ala
ENST00000342245.8:c.914T>C	ENSP00000340409.4:p.Val305Ala
ENST00000526280.1:c.103T>C
ENST00000527275.5:c.911T>C	ENSP00000435350.1:p.Val304Ala
ENST00000530395.1:c.95T>C	ENSP00000431479.1:p.Val32Ala
ENST00000531303.5:c.438+476T>C	ENSP00000432625.1:n.438+476T>C
ENST00000533123.5:c.914T>C	ENSP00000435950.1:p.Val305Ala
ENST00000533196.1:n.375-27T>C
ENST00000534405.5:c.914T>C	ENSP00000434353.1:p.Val305Ala
NM_000543.4:c.914T>C	NP_000534.3:p.Val305Ala
NM_001007593.2:c.911T>C	NP_001007594.2:p.Val304Ala
XM_005253075.3:c.914T>C	XP_005253132.1:p.Val305Ala
XM_011520303.1:c.914T>C	XP_011518605.1:p.Val305Ala
XM_011520304.1:c.914T>C	XP_011518606.1:p.Val305Ala
XR_930886.1:n.1212T>C
NM_001318087.1:c.914T>C	NP_001305016.1:p.Val305Ala
NM_001318088.1:c.-48T>C	NP_001305017.1:n.-48T>C
NM_001365135.1:c.914T>C	NP_001352064.1:p.Val305Ala
NR_027400.2:n.1099T>C
NR_134502.1:n.623+476T>C
XM_011520304.2:c.914T>C	XP_011518606.1:p.Val305Ala
XR_001747940.2:n.1039T>C
XR_002957158.1:n.1039T>C
NM_000543.5:c.914T>C MANE Select	NP_000534.3:p.Val305Ala
NM_001007593.3:c.911T>C	NP_001007594.2:p.Val304Ala
NM_001318087.2:c.914T>C	NP_001305016.1:p.Val305Ala
NM_001318088.2:c.-48T>C	NP_001305017.1:n.-48T>C
NM_001365135.2:c.914T>C	NP_001352064.1:p.Val305Ala
NR_027400.3:n.1039T>C
NR_134502.2:n.563+476T>C