Canonical Allele Identifier: CA2739366472

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392173G>C , CM000673.2:g.6392173G>C	GRCh38
NC_000011.9:g.6413403G>C , CM000673.1:g.6413403G>C	GRCh37
NC_000011.8:g.6369979G>C	NCBI36
NG_011780.1:g.6749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+17G>C MANE Select	ENSP00000340409.4:n.1091+17G>C
ENST00000342245.8:c.1091+17G>C	ENSP00000340409.4:n.1091+17G>C
ENST00000526280.1:c.297G>C
ENST00000527275.5:c.1088+17G>C	ENSP00000435350.1:n.1088+17G>C
ENST00000531303.5:c.438+670G>C	ENSP00000432625.1:n.438+670G>C
ENST00000533123.5:c.1091+17G>C	ENSP00000435950.1:n.1091+17G>C
ENST00000534405.5:c.1108G>C	ENSP00000434353.1:p.Glu370Gln
NM_000543.4:c.1091+17G>C	NP_000534.3:n.1091+17G>C
NM_001007593.2:c.1088+17G>C	NP_001007594.2:n.1088+17G>C
XM_005253075.3:c.1091+17G>C	XP_005253132.1:n.1091+17G>C
XM_011520303.1:c.1108G>C	XP_011518605.1:p.Glu370Gln
XM_011520304.1:c.1108G>C	XP_011518606.1:p.Glu370Gln
XR_930886.1:n.1406G>C
NM_001318087.1:c.1091+17G>C	NP_001305016.1:n.1091+17G>C
NM_001318088.1:c.147G>C	NP_001305017.1:p.Trp49Cys
NM_001365135.1:c.1108G>C	NP_001352064.1:p.Glu370Gln
NR_027400.2:n.1276+17G>C
NR_134502.1:n.623+670G>C
XM_011520304.2:c.1108G>C	XP_011518606.1:p.Glu370Gln
XR_001747940.2:n.1233G>C
XR_002957158.1:n.1233G>C
NM_000543.5:c.1091+17G>C MANE Select	NP_000534.3:n.1091+17G>C
NM_001007593.3:c.1088+17G>C	NP_001007594.2:n.1088+17G>C
NM_001318087.2:c.1091+17G>C	NP_001305016.1:n.1091+17G>C
NM_001318088.2:c.147G>C	NP_001305017.1:p.Trp49Cys
NM_001365135.2:c.1108G>C	NP_001352064.1:p.Glu370Gln
NR_027400.3:n.1216+17G>C
NR_134502.2:n.563+670G>C