Canonical Allele Identifier: CA2612224482

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394925-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394925A>T , CM000673.2:g.6394925A>T	GRCh38
NC_000011.9:g.6416155A>T , CM000673.1:g.6416155A>T	GRCh37
NC_000011.8:g.6372731A>T	NCBI36
NG_011780.1:g.9501A>T
NG_029615.1:g.29490T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*318A>T MANE Select	ENSP00000340409.4:n.*318A>T
ENST00000342245.8:c.*318A>T	ENSP00000340409.4:n.*318A>T
ENST00000526280.1:c.1271A>T
ENST00000533123.5:c.*941A>T	ENSP00000435950.1:n.*941A>T
ENST00000534405.5:c.*1045A>T	ENSP00000434353.1:n.*1045A>T
NM_000543.4:c.*318A>T	NP_000534.3:n.*318A>T
NM_001007593.2:c.*318A>T	NP_001007594.2:n.*318A>T
XM_011520303.1:c.*318A>T	XP_011518605.1:n.*318A>T
NM_001318087.1:c.*707A>T	NP_001305016.1:n.*707A>T
NM_001318088.1:c.*318A>T	NP_001305017.1:n.*318A>T
NM_001365135.1:c.*318A>T	NP_001352064.1:n.*318A>T
NR_027400.2:n.2227A>T
NR_134502.1:n.1766A>T
XR_001747940.2:n.2399A>T
XR_002957158.1:n.2581A>T
NM_000543.5:c.*318A>T MANE Select	NP_000534.3:n.*318A>T
NM_001007593.3:c.*318A>T	NP_001007594.2:n.*318A>T
NM_001318087.2:c.*707A>T	NP_001305016.1:n.*707A>T
NM_001318088.2:c.*318A>T	NP_001305017.1:n.*318A>T
NM_001365135.2:c.*318A>T	NP_001352064.1:n.*318A>T
NR_027400.3:n.2167A>T
NR_134502.2:n.1706A>T