Canonical Allele Identifier: CA2574738602

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392185-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392185G>T , CM000673.2:g.6392185G>T	GRCh38
NC_000011.9:g.6413415G>T , CM000673.1:g.6413415G>T	GRCh37
NC_000011.8:g.6369991G>T	NCBI36
NG_011780.1:g.6761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+29G>T MANE Select	ENSP00000340409.4:n.1091+29G>T
ENST00000342245.8:c.1091+29G>T	ENSP00000340409.4:n.1091+29G>T
ENST00000526280.1:c.309G>T
ENST00000527275.5:c.1088+29G>T	ENSP00000435350.1:n.1088+29G>T
ENST00000531303.5:c.438+682G>T	ENSP00000432625.1:n.438+682G>T
ENST00000533123.5:c.1091+29G>T	ENSP00000435950.1:n.1091+29G>T
ENST00000534405.5:c.1120G>T	ENSP00000434353.1:p.Gly374Trp
NM_000543.4:c.1091+29G>T	NP_000534.3:n.1091+29G>T
NM_001007593.2:c.1088+29G>T	NP_001007594.2:n.1088+29G>T
XM_005253075.3:c.1091+29G>T	XP_005253132.1:n.1091+29G>T
XM_011520303.1:c.1120G>T	XP_011518605.1:p.Gly374Trp
XM_011520304.1:c.1120G>T	XP_011518606.1:p.Gly374Trp
XR_930886.1:n.1418G>T
NM_001318087.1:c.1091+29G>T	NP_001305016.1:n.1091+29G>T
NM_001318088.1:c.159G>T	NP_001305017.1:p.Lys53Asn
NM_001365135.1:c.1120G>T	NP_001352064.1:p.Gly374Trp
NR_027400.2:n.1276+29G>T
NR_134502.1:n.623+682G>T
XM_011520304.2:c.1120G>T	XP_011518606.1:p.Gly374Trp
XR_001747940.2:n.1245G>T
XR_002957158.1:n.1245G>T
NM_000543.5:c.1091+29G>T MANE Select	NP_000534.3:n.1091+29G>T
NM_001007593.3:c.1088+29G>T	NP_001007594.2:n.1088+29G>T
NM_001318087.2:c.1091+29G>T	NP_001305016.1:n.1091+29G>T
NM_001318088.2:c.159G>T	NP_001305017.1:p.Lys53Asn
NM_001365135.2:c.1120G>T	NP_001352064.1:p.Gly374Trp
NR_027400.3:n.1216+29G>T
NR_134502.2:n.563+682G>T