Canonical Allele Identifier: CA379376902

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415664C>A (hg19) ; chr11:g.6394434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394434C>A , CM000673.2:g.6394434C>A	GRCh38
NC_000011.9:g.6415664C>A , CM000673.1:g.6415664C>A	GRCh37
NC_000011.8:g.6372240C>A	NCBI36
NG_011780.1:g.9010C>A
NG_029615.1:g.29981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1723C>A MANE Select	ENSP00000340409.4:p.Leu575Ile
ENST00000342245.8:c.1723C>A	ENSP00000340409.4:p.Leu575Ile
ENST00000526280.1:c.780C>A
ENST00000527275.5:c.1720C>A	ENSP00000435350.1:p.Leu574Ile
ENST00000531303.5:c.*574C>A	ENSP00000432625.1:n.*574C>A
ENST00000533123.5:c.*450C>A	ENSP00000435950.1:n.*450C>A
ENST00000534405.5:c.*554C>A	ENSP00000434353.1:n.*554C>A
NM_000543.4:c.1723C>A	NP_000534.3:p.Leu575Ile
NM_001007593.2:c.1720C>A	NP_001007594.2:p.Leu574Ile
XM_005253075.3:c.*216C>A	XP_005253132.1:n.*216C>A
XM_011520303.1:c.1591C>A	XP_011518605.1:p.Leu531Ile
XM_011520304.1:c.*216C>A	XP_011518606.1:n.*216C>A
NM_001318087.1:c.*216C>A	NP_001305016.1:n.*216C>A
NM_001318088.1:c.802C>A	NP_001305017.1:p.Leu268Ile
NM_001365135.1:c.1591C>A	NP_001352064.1:p.Leu531Ile
NR_027400.2:n.1736C>A
NR_134502.1:n.1275C>A
XM_011520304.2:c.*216C>A	XP_011518606.1:n.*216C>A
XR_001747940.2:n.1908C>A
XR_002957158.1:n.2090C>A
NM_000543.5:c.1723C>A MANE Select	NP_000534.3:p.Leu575Ile
NM_001007593.3:c.1720C>A	NP_001007594.2:p.Leu574Ile
NM_001318087.2:c.*216C>A	NP_001305016.1:n.*216C>A
NM_001318088.2:c.802C>A	NP_001305017.1:p.Leu268Ile
NM_001365135.2:c.1591C>A	NP_001352064.1:p.Leu531Ile
NR_027400.3:n.1676C>A
NR_134502.2:n.1215C>A