Canonical Allele Identifier: CA379370304

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391675C>A , CM000673.2:g.6391675C>A	GRCh38
NC_000011.9:g.6412905C>A , CM000673.1:g.6412905C>A	GRCh37
NC_000011.8:g.6369481C>A	NCBI36
NG_011780.1:g.6251C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.610C>A MANE Select	NP_000534.3:p.Leu204Ile
ENST00000342245.9:c.610C>A MANE Select	ENSP00000340409.4:p.Leu204Ile
NM_000543.4:c.610C>A	NP_000534.3:p.Leu204Ile
NM_001007593.2:c.607C>A	NP_001007594.2:p.Leu203Ile
NM_001007593.3:c.607C>A	NP_001007594.2:p.Leu203Ile
NM_001318087.1:c.610C>A	NP_001305016.1:p.Leu204Ile
NM_001318087.2:c.610C>A	NP_001305016.1:p.Leu204Ile
NM_001318088.1:c.-352C>A	NP_001305017.1:n.-352C>A
NM_001318088.2:c.-352C>A	NP_001305017.1:n.-352C>A
NM_001365135.1:c.610C>A	NP_001352064.1:p.Leu204Ile
NM_001365135.2:c.610C>A	NP_001352064.1:p.Leu204Ile
NR_027400.2:n.795C>A
NR_027400.3:n.735C>A
NR_134502.1:n.623+172C>A
NR_134502.2:n.563+172C>A
ENST00000342245.8:c.610C>A	ENSP00000340409.4:p.Leu204Ile
ENST00000527275.5:c.607C>A	ENSP00000435350.1:p.Leu203Ile
ENST00000530395.1:c.-95-115C>A	ENSP00000431479.1:n.-95-115C>A
ENST00000531303.5:c.438+172C>A	ENSP00000432625.1:n.438+172C>A
ENST00000533123.5:c.610C>A	ENSP00000435950.1:p.Leu204Ile
ENST00000533196.1:n.375-331C>A
ENST00000534405.5:c.610C>A	ENSP00000434353.1:p.Leu204Ile
XM_005253075.3:c.610C>A	XP_005253132.1:p.Leu204Ile
XM_011520303.1:c.610C>A	XP_011518605.1:p.Leu204Ile
XM_011520304.1:c.610C>A	XP_011518606.1:p.Leu204Ile
XM_011520304.2:c.610C>A	XP_011518606.1:p.Leu204Ile
XR_001747940.2:n.735C>A
XR_002957158.1:n.735C>A
XR_930886.1:n.908C>A