Canonical Allele Identifier: CA472910359

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415732C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394502C>A , CM000673.2:g.6394502C>A	GRCh38
NC_000011.9:g.6415732C>A , CM000673.1:g.6415732C>A	GRCh37
NC_000011.8:g.6372308C>A	NCBI36
NG_011780.1:g.9078C>A
NG_029615.1:g.29913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1791C>A MANE Select	ENSP00000340409.4:p.Ala597=
ENST00000342245.8:c.1791C>A	ENSP00000340409.4:p.Ala597=
ENST00000526280.1:c.848C>A
ENST00000527275.5:c.1788C>A	ENSP00000435350.1:p.Ala596=
ENST00000531303.5:c.*642C>A	ENSP00000432625.1:n.*642C>A
ENST00000533123.5:c.*518C>A	ENSP00000435950.1:n.*518C>A
ENST00000534405.5:c.*622C>A	ENSP00000434353.1:n.*622C>A
NM_000543.4:c.1791C>A	NP_000534.3:p.Ala597=
NM_001007593.2:c.1788C>A	NP_001007594.2:p.Ala596=
XM_005253075.3:c.*284C>A	XP_005253132.1:n.*284C>A
XM_011520303.1:c.1659C>A	XP_011518605.1:p.Ala553=
XM_011520304.1:c.*284C>A	XP_011518606.1:n.*284C>A
NM_001318087.1:c.*284C>A	NP_001305016.1:n.*284C>A
NM_001318088.1:c.870C>A	NP_001305017.1:p.Ala290=
NM_001365135.1:c.1659C>A	NP_001352064.1:p.Ala553=
NR_027400.2:n.1804C>A
NR_134502.1:n.1343C>A
XM_011520304.2:c.*284C>A	XP_011518606.1:n.*284C>A
XR_001747940.2:n.1976C>A
XR_002957158.1:n.2158C>A
NM_000543.5:c.1791C>A MANE Select	NP_000534.3:p.Ala597=
NM_001007593.3:c.1788C>A	NP_001007594.2:p.Ala596=
NM_001318087.2:c.*284C>A	NP_001305016.1:n.*284C>A
NM_001318088.2:c.870C>A	NP_001305017.1:p.Ala290=
NM_001365135.2:c.1659C>A	NP_001352064.1:p.Ala553=
NR_027400.3:n.1744C>A
NR_134502.2:n.1283C>A