Canonical Allele Identifier: CA5852727

Gene: SMPD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392066T>C , CM000673.2:g.6392066T>C	GRCh38
NC_000011.9:g.6413296T>C , CM000673.1:g.6413296T>C	GRCh37
NC_000011.8:g.6369872T>C	NCBI36
NG_011780.1:g.6642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1001T>C MANE Select	ENSP00000340409.4:p.Ile334Thr
ENST00000342245.8:c.1001T>C	ENSP00000340409.4:p.Ile334Thr
ENST00000526280.1:c.190T>C
ENST00000527275.5:c.998T>C	ENSP00000435350.1:p.Ile333Thr
ENST00000531303.5:c.438+563T>C	ENSP00000432625.1:n.438+563T>C
ENST00000533123.5:c.1001T>C	ENSP00000435950.1:p.Ile334Thr
ENST00000534405.5:c.1001T>C	ENSP00000434353.1:p.Ile334Thr
NM_000543.4:c.1001T>C	NP_000534.3:p.Ile334Thr
NM_001007593.2:c.998T>C	NP_001007594.2:p.Ile333Thr
XM_005253075.3:c.1001T>C	XP_005253132.1:p.Ile334Thr
XM_011520303.1:c.1001T>C	XP_011518605.1:p.Ile334Thr
XM_011520304.1:c.1001T>C	XP_011518606.1:p.Ile334Thr
XR_930886.1:n.1299T>C
NM_001318087.1:c.1001T>C	NP_001305016.1:p.Ile334Thr
NM_001318088.1:c.40T>C	NP_001305017.1:p.Leu14=
NM_001365135.1:c.1001T>C	NP_001352064.1:p.Ile334Thr
NR_027400.2:n.1186T>C
NR_134502.1:n.623+563T>C
XM_011520304.2:c.1001T>C	XP_011518606.1:p.Ile334Thr
XR_001747940.2:n.1126T>C
XR_002957158.1:n.1126T>C
NM_000543.5:c.1001T>C MANE Select	NP_000534.3:p.Ile334Thr
NM_001007593.3:c.998T>C	NP_001007594.2:p.Ile333Thr
NM_001318087.2:c.1001T>C	NP_001305016.1:p.Ile334Thr
NM_001318088.2:c.40T>C	NP_001305017.1:p.Leu14=
NM_001365135.2:c.1001T>C	NP_001352064.1:p.Ile334Thr
NR_027400.3:n.1126T>C
NR_134502.2:n.563+563T>C