Canonical Allele Identifier: CA379371186

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413162G>T (hg19) ; chr11:g.6391932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391932G>T , CM000673.2:g.6391932G>T	GRCh38
NC_000011.9:g.6413162G>T , CM000673.1:g.6413162G>T	GRCh37
NC_000011.8:g.6369738G>T	NCBI36
NG_011780.1:g.6508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.867G>T MANE Select	ENSP00000340409.4:p.Gln289His
ENST00000342245.8:c.867G>T	ENSP00000340409.4:p.Gln289His
ENST00000526280.1:c.56G>T
ENST00000527275.5:c.864G>T	ENSP00000435350.1:p.Gln288His
ENST00000530395.1:c.48G>T	ENSP00000431479.1:p.Gln16His
ENST00000531303.5:c.438+429G>T	ENSP00000432625.1:n.438+429G>T
ENST00000533123.5:c.867G>T	ENSP00000435950.1:p.Gln289His
ENST00000533196.1:n.375-74G>T
ENST00000534405.5:c.867G>T	ENSP00000434353.1:p.Gln289His
NM_000543.4:c.867G>T	NP_000534.3:p.Gln289His
NM_001007593.2:c.864G>T	NP_001007594.2:p.Gln288His
XM_005253075.3:c.867G>T	XP_005253132.1:p.Gln289His
XM_011520303.1:c.867G>T	XP_011518605.1:p.Gln289His
XM_011520304.1:c.867G>T	XP_011518606.1:p.Gln289His
XR_930886.1:n.1165G>T
NM_001318087.1:c.867G>T	NP_001305016.1:p.Gln289His
NM_001318088.1:c.-95G>T	NP_001305017.1:n.-95G>T
NM_001365135.1:c.867G>T	NP_001352064.1:p.Gln289His
NR_027400.2:n.1052G>T
NR_134502.1:n.623+429G>T
XM_011520304.2:c.867G>T	XP_011518606.1:p.Gln289His
XR_001747940.2:n.992G>T
XR_002957158.1:n.992G>T
NM_000543.5:c.867G>T MANE Select	NP_000534.3:p.Gln289His
NM_001007593.3:c.864G>T	NP_001007594.2:p.Gln288His
NM_001318087.2:c.867G>T	NP_001305016.1:p.Gln289His
NM_001318088.2:c.-95G>T	NP_001305017.1:n.-95G>T
NM_001365135.2:c.867G>T	NP_001352064.1:p.Gln289His
NR_027400.3:n.992G>T
NR_134502.2:n.563+429G>T