Canonical Allele Identifier: CA2612222756

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393182-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393182C>A , CM000673.2:g.6393182C>A	GRCh38
NC_000011.9:g.6414412C>A , CM000673.1:g.6414412C>A	GRCh37
NC_000011.8:g.6370988C>A	NCBI36
NG_011780.1:g.7758C>A
NG_029615.1:g.31233G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-34C>A MANE Select	ENSP00000340409.4:n.1092-34C>A
ENST00000342245.8:c.1092-34C>A	ENSP00000340409.4:n.1092-34C>A
ENST00000526280.1:c.321-435C>A
ENST00000527275.5:c.1089-34C>A	ENSP00000435350.1:n.1089-34C>A
ENST00000531303.5:c.439-34C>A	ENSP00000432625.1:n.439-34C>A
ENST00000533123.5:c.1092-435C>A	ENSP00000435950.1:n.1092-435C>A
ENST00000534405.5:c.1132-34C>A	ENSP00000434353.1:n.1132-34C>A
NM_000543.4:c.1092-34C>A	NP_000534.3:n.1092-34C>A
NM_001007593.2:c.1089-34C>A	NP_001007594.2:n.1089-34C>A
XM_005253075.3:c.1092-34C>A	XP_005253132.1:n.1092-34C>A
XM_011520303.1:c.1132-435C>A	XP_011518605.1:n.1132-435C>A
XM_011520304.1:c.1132-435C>A	XP_011518606.1:n.1132-435C>A
XR_930886.1:n.1430-34C>A
NM_001318087.1:c.1092-34C>A	NP_001305016.1:n.1092-34C>A
NM_001318088.1:c.171-34C>A	NP_001305017.1:n.171-34C>A
NM_001365135.1:c.1132-435C>A	NP_001352064.1:n.1132-435C>A
NR_027400.2:n.1277-435C>A
NR_134502.1:n.624-34C>A
XM_011520304.2:c.1132-435C>A	XP_011518606.1:n.1132-435C>A
XR_001747940.2:n.1257-34C>A
XR_002957158.1:n.1257-34C>A
NM_000543.5:c.1092-34C>A MANE Select	NP_000534.3:n.1092-34C>A
NM_001007593.3:c.1089-34C>A	NP_001007594.2:n.1089-34C>A
NM_001318087.2:c.1092-34C>A	NP_001305016.1:n.1092-34C>A
NM_001318088.2:c.171-34C>A	NP_001305017.1:n.171-34C>A
NM_001365135.2:c.1132-435C>A	NP_001352064.1:n.1132-435C>A
NR_027400.3:n.1217-435C>A
NR_134502.2:n.564-34C>A