Canonical Allele Identifier: CA472910120

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415438G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394208G>C , CM000673.2:g.6394208G>C	GRCh38
NC_000011.9:g.6415438G>C , CM000673.1:g.6415438G>C	GRCh37
NC_000011.8:g.6372014G>C	NCBI36
NG_011780.1:g.8784G>C
NG_029615.1:g.30207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1497G>C MANE Select	ENSP00000340409.4:p.Val499=
ENST00000342245.8:c.1497G>C	ENSP00000340409.4:p.Val499=
ENST00000526280.1:c.554G>C
ENST00000527275.5:c.1494G>C	ENSP00000435350.1:p.Val498=
ENST00000531303.5:c.*348G>C	ENSP00000432625.1:n.*348G>C
ENST00000531336.1:n.485G>C
ENST00000533123.5:c.*224G>C	ENSP00000435950.1:n.*224G>C
ENST00000534405.5:c.*328G>C	ENSP00000434353.1:n.*328G>C
NM_000543.4:c.1497G>C	NP_000534.3:p.Val499=
NM_001007593.2:c.1494G>C	NP_001007594.2:p.Val498=
XM_005253075.3:c.1517G>C	XP_005253132.1:p.Cys506Ser
XM_011520303.1:c.1365G>C	XP_011518605.1:p.Val455=
XM_011520304.1:c.1385G>C	XP_011518606.1:p.Cys462Ser
NM_001318087.1:c.1517G>C	NP_001305016.1:p.Cys506Ser
NM_001318088.1:c.576G>C	NP_001305017.1:p.Val192=
NM_001365135.1:c.1365G>C	NP_001352064.1:p.Val455=
NR_027400.2:n.1510G>C
NR_134502.1:n.1049G>C
XM_011520304.2:c.1385G>C	XP_011518606.1:p.Cys462Ser
XR_001747940.2:n.1682G>C
XR_002957158.1:n.1864G>C
NM_000543.5:c.1497G>C MANE Select	NP_000534.3:p.Val499=
NM_001007593.3:c.1494G>C	NP_001007594.2:p.Val498=
NM_001318087.2:c.1517G>C	NP_001305016.1:p.Cys506Ser
NM_001318088.2:c.576G>C	NP_001305017.1:p.Val192=
NM_001365135.2:c.1365G>C	NP_001352064.1:p.Val455=
NR_027400.3:n.1450G>C
NR_134502.2:n.989G>C