Canonical Allele Identifier: CA472909904

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414873A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393643A>C , CM000673.2:g.6393643A>C	GRCh38
NC_000011.9:g.6414873A>C , CM000673.1:g.6414873A>C	GRCh37
NC_000011.8:g.6371449A>C	NCBI36
NG_011780.1:g.8219A>C
NG_029615.1:g.30772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1290A>C MANE Select	ENSP00000340409.4:p.Pro430=
ENST00000342245.8:c.1290A>C	ENSP00000340409.4:p.Pro430=
ENST00000526280.1:c.347A>C
ENST00000527275.5:c.1287A>C	ENSP00000435350.1:p.Pro429=
ENST00000531303.5:c.*121A>C	ENSP00000432625.1:n.*121A>C
ENST00000531336.1:n.122A>C
ENST00000532367.1:n.126A>C
ENST00000533123.5:c.*17A>C	ENSP00000435950.1:n.*17A>C
ENST00000534405.5:c.*121A>C	ENSP00000434353.1:n.*121A>C
NM_000543.4:c.1290A>C	NP_000534.3:p.Pro430=
NM_001007593.2:c.1287A>C	NP_001007594.2:p.Pro429=
XM_005253075.3:c.1290A>C	XP_005253132.1:p.Pro430=
XM_011520303.1:c.1158A>C	XP_011518605.1:p.Pro386=
XM_011520304.1:c.1158A>C	XP_011518606.1:p.Pro386=
XR_930886.1:n.1628A>C
NM_001318087.1:c.1290A>C	NP_001305016.1:p.Pro430=
NM_001318088.1:c.369A>C	NP_001305017.1:p.Pro123=
NM_001365135.1:c.1158A>C	NP_001352064.1:p.Pro386=
NR_027400.2:n.1303A>C
NR_134502.1:n.822A>C
XM_011520304.2:c.1158A>C	XP_011518606.1:p.Pro386=
XR_001747940.2:n.1455A>C
XR_002957158.1:n.1455A>C
NM_000543.5:c.1290A>C MANE Select	NP_000534.3:p.Pro430=
NM_001007593.3:c.1287A>C	NP_001007594.2:p.Pro429=
NM_001318087.2:c.1290A>C	NP_001305016.1:p.Pro430=
NM_001318088.2:c.369A>C	NP_001305017.1:p.Pro123=
NM_001365135.2:c.1158A>C	NP_001352064.1:p.Pro386=
NR_027400.3:n.1243A>C
NR_134502.2:n.762A>C