Canonical Allele Identifier: CA5852796

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393256C>A , CM000673.2:g.6393256C>A	GRCh38
NC_000011.9:g.6414486C>A , CM000673.1:g.6414486C>A	GRCh37
NC_000011.8:g.6371062C>A	NCBI36
NG_011780.1:g.7832C>A
NG_029615.1:g.31159G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1132C>A MANE Select	NP_000534.3:p.Arg378Ser
ENST00000342245.9:c.1132C>A MANE Select	ENSP00000340409.4:p.Arg378Ser
NM_000543.4:c.1132C>A	NP_000534.3:p.Arg378Ser
NM_001007593.2:c.1129C>A	NP_001007594.2:p.Arg377Ser
NM_001007593.3:c.1129C>A	NP_001007594.2:p.Arg377Ser
NM_001318087.1:c.1132C>A	NP_001305016.1:p.Arg378Ser
NM_001318087.2:c.1132C>A	NP_001305016.1:p.Arg378Ser
NM_001318088.1:c.211C>A	NP_001305017.1:p.Arg71Ser
NM_001318088.2:c.211C>A	NP_001305017.1:p.Arg71Ser
NM_001365135.1:c.1132-361C>A	NP_001352064.1:n.1132-361C>A
NM_001365135.2:c.1132-361C>A	NP_001352064.1:n.1132-361C>A
NR_027400.2:n.1277-361C>A
NR_027400.3:n.1217-361C>A
NR_134502.1:n.664C>A
NR_134502.2:n.604C>A
ENST00000342245.8:c.1132C>A	ENSP00000340409.4:p.Arg378Ser
ENST00000526280.1:c.321-361C>A
ENST00000527275.5:c.1129C>A	ENSP00000435350.1:p.Arg377Ser
ENST00000531303.5:c.479C>A	ENSP00000432625.1:p.Pro160Gln
ENST00000533123.5:c.1092-361C>A	ENSP00000435950.1:n.1092-361C>A
ENST00000534405.5:c.1172C>A	ENSP00000434353.1:p.Pro391Gln
XM_005253075.3:c.1132C>A	XP_005253132.1:p.Arg378Ser
XM_011520303.1:c.1132-361C>A	XP_011518605.1:n.1132-361C>A
XM_011520304.1:c.1132-361C>A	XP_011518606.1:n.1132-361C>A
XM_011520304.2:c.1132-361C>A	XP_011518606.1:n.1132-361C>A
XR_001747940.2:n.1297C>A
XR_002957158.1:n.1297C>A
XR_930886.1:n.1470C>A