Canonical Allele Identifier: CA2612224368

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394852-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394852G>A , CM000673.2:g.6394852G>A	GRCh38
NC_000011.9:g.6416082G>A , CM000673.1:g.6416082G>A	GRCh37
NC_000011.8:g.6372658G>A	NCBI36
NG_011780.1:g.9428G>A
NG_029615.1:g.29563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*245G>A MANE Select	ENSP00000340409.4:n.*245G>A
ENST00000342245.8:c.*245G>A	ENSP00000340409.4:n.*245G>A
ENST00000526280.1:c.1198G>A
ENST00000533123.5:c.*868G>A	ENSP00000435950.1:n.*868G>A
ENST00000534405.5:c.*972G>A	ENSP00000434353.1:n.*972G>A
NM_000543.4:c.*245G>A	NP_000534.3:n.*245G>A
NM_001007593.2:c.*245G>A	NP_001007594.2:n.*245G>A
XM_011520303.1:c.*245G>A	XP_011518605.1:n.*245G>A
NM_001318087.1:c.*634G>A	NP_001305016.1:n.*634G>A
NM_001318088.1:c.*245G>A	NP_001305017.1:n.*245G>A
NM_001365135.1:c.*245G>A	NP_001352064.1:n.*245G>A
NR_027400.2:n.2154G>A
NR_134502.1:n.1693G>A
XR_001747940.2:n.2326G>A
XR_002957158.1:n.2508G>A
NM_000543.5:c.*245G>A MANE Select	NP_000534.3:n.*245G>A
NM_001007593.3:c.*245G>A	NP_001007594.2:n.*245G>A
NM_001318087.2:c.*634G>A	NP_001305016.1:n.*634G>A
NM_001318088.2:c.*245G>A	NP_001305017.1:n.*245G>A
NM_001365135.2:c.*245G>A	NP_001352064.1:n.*245G>A
NR_027400.3:n.2094G>A
NR_134502.2:n.1633G>A