Canonical Allele Identifier: CA472910231

Gene: SMPD1

Linked Data

• COSMIC: COSM4035144 ; COSM4035145
• MyVariant Identifiers: chr11:g.6415678C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394448C>T , CM000673.2:g.6394448C>T	GRCh38
NC_000011.9:g.6415678C>T , CM000673.1:g.6415678C>T	GRCh37
NC_000011.8:g.6372254C>T	NCBI36
NG_011780.1:g.9024C>T
NG_029615.1:g.29967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1737C>T MANE Select	ENSP00000340409.4:p.Gly579=
ENST00000342245.8:c.1737C>T	ENSP00000340409.4:p.Gly579=
ENST00000526280.1:c.794C>T
ENST00000527275.5:c.1734C>T	ENSP00000435350.1:p.Gly578=
ENST00000531303.5:c.*588C>T	ENSP00000432625.1:n.*588C>T
ENST00000533123.5:c.*464C>T	ENSP00000435950.1:n.*464C>T
ENST00000534405.5:c.*568C>T	ENSP00000434353.1:n.*568C>T
NM_000543.4:c.1737C>T	NP_000534.3:p.Gly579=
NM_001007593.2:c.1734C>T	NP_001007594.2:p.Gly578=
XM_005253075.3:c.*230C>T	XP_005253132.1:n.*230C>T
XM_011520303.1:c.1605C>T	XP_011518605.1:p.Gly535=
XM_011520304.1:c.*230C>T	XP_011518606.1:n.*230C>T
NM_001318087.1:c.*230C>T	NP_001305016.1:n.*230C>T
NM_001318088.1:c.816C>T	NP_001305017.1:p.Gly272=
NM_001365135.1:c.1605C>T	NP_001352064.1:p.Gly535=
NR_027400.2:n.1750C>T
NR_134502.1:n.1289C>T
XM_011520304.2:c.*230C>T	XP_011518606.1:n.*230C>T
XR_001747940.2:n.1922C>T
XR_002957158.1:n.2104C>T
NM_000543.5:c.1737C>T MANE Select	NP_000534.3:p.Gly579=
NM_001007593.3:c.1734C>T	NP_001007594.2:p.Gly578=
NM_001318087.2:c.*230C>T	NP_001305016.1:n.*230C>T
NM_001318088.2:c.816C>T	NP_001305017.1:p.Gly272=
NM_001365135.2:c.1605C>T	NP_001352064.1:p.Gly535=
NR_027400.3:n.1690C>T
NR_134502.2:n.1229C>T