Canonical Allele Identifier: CA472910249

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415684A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394454A>G , CM000673.2:g.6394454A>G	GRCh38
NC_000011.9:g.6415684A>G , CM000673.1:g.6415684A>G	GRCh37
NC_000011.8:g.6372260A>G	NCBI36
NG_011780.1:g.9030A>G
NG_029615.1:g.29961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1743A>G MANE Select	ENSP00000340409.4:p.Pro581=
ENST00000342245.8:c.1743A>G	ENSP00000340409.4:p.Pro581=
ENST00000526280.1:c.800A>G
ENST00000527275.5:c.1740A>G	ENSP00000435350.1:p.Pro580=
ENST00000531303.5:c.*594A>G	ENSP00000432625.1:n.*594A>G
ENST00000533123.5:c.*470A>G	ENSP00000435950.1:n.*470A>G
ENST00000534405.5:c.*574A>G	ENSP00000434353.1:n.*574A>G
NM_000543.4:c.1743A>G	NP_000534.3:p.Pro581=
NM_001007593.2:c.1740A>G	NP_001007594.2:p.Pro580=
XM_005253075.3:c.*236A>G	XP_005253132.1:n.*236A>G
XM_011520303.1:c.1611A>G	XP_011518605.1:p.Pro537=
XM_011520304.1:c.*236A>G	XP_011518606.1:n.*236A>G
NM_001318087.1:c.*236A>G	NP_001305016.1:n.*236A>G
NM_001318088.1:c.822A>G	NP_001305017.1:p.Pro274=
NM_001365135.1:c.1611A>G	NP_001352064.1:p.Pro537=
NR_027400.2:n.1756A>G
NR_134502.1:n.1295A>G
XM_011520304.2:c.*236A>G	XP_011518606.1:n.*236A>G
XR_001747940.2:n.1928A>G
XR_002957158.1:n.2110A>G
NM_000543.5:c.1743A>G MANE Select	NP_000534.3:p.Pro581=
NM_001007593.3:c.1740A>G	NP_001007594.2:p.Pro580=
NM_001318087.2:c.*236A>G	NP_001305016.1:n.*236A>G
NM_001318088.2:c.822A>G	NP_001305017.1:p.Pro274=
NM_001365135.2:c.1611A>G	NP_001352064.1:p.Pro537=
NR_027400.3:n.1696A>G
NR_134502.2:n.1235A>G