Canonical Allele Identifier: CA2612224306

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394804-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394804C>A , CM000673.2:g.6394804C>A	GRCh38
NC_000011.9:g.6416034C>A , CM000673.1:g.6416034C>A	GRCh37
NC_000011.8:g.6372610C>A	NCBI36
NG_011780.1:g.9380C>A
NG_029615.1:g.29611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*197C>A MANE Select	ENSP00000340409.4:n.*197C>A
ENST00000342245.8:c.*197C>A	ENSP00000340409.4:n.*197C>A
ENST00000526280.1:c.1150C>A
ENST00000533123.5:c.*820C>A	ENSP00000435950.1:n.*820C>A
ENST00000534405.5:c.*924C>A	ENSP00000434353.1:n.*924C>A
NM_000543.4:c.*197C>A	NP_000534.3:n.*197C>A
NM_001007593.2:c.*197C>A	NP_001007594.2:n.*197C>A
XM_011520303.1:c.*197C>A	XP_011518605.1:n.*197C>A
NM_001318087.1:c.*586C>A	NP_001305016.1:n.*586C>A
NM_001318088.1:c.*197C>A	NP_001305017.1:n.*197C>A
NM_001365135.1:c.*197C>A	NP_001352064.1:n.*197C>A
NR_027400.2:n.2106C>A
NR_134502.1:n.1645C>A
XR_001747940.2:n.2278C>A
XR_002957158.1:n.2460C>A
NM_000543.5:c.*197C>A MANE Select	NP_000534.3:n.*197C>A
NM_001007593.3:c.*197C>A	NP_001007594.2:n.*197C>A
NM_001318087.2:c.*586C>A	NP_001305016.1:n.*586C>A
NM_001318088.2:c.*197C>A	NP_001305017.1:n.*197C>A
NM_001365135.2:c.*197C>A	NP_001352064.1:n.*197C>A
NR_027400.3:n.2046C>A
NR_134502.2:n.1585C>A