Canonical Allele Identifier: CA2612224297

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394800-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394800T>G , CM000673.2:g.6394800T>G	GRCh38
NC_000011.9:g.6416030T>G , CM000673.1:g.6416030T>G	GRCh37
NC_000011.8:g.6372606T>G	NCBI36
NG_011780.1:g.9376T>G
NG_029615.1:g.29615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*193T>G MANE Select	ENSP00000340409.4:n.*193T>G
ENST00000342245.8:c.*193T>G	ENSP00000340409.4:n.*193T>G
ENST00000526280.1:c.1146T>G
ENST00000533123.5:c.*816T>G	ENSP00000435950.1:n.*816T>G
ENST00000534405.5:c.*920T>G	ENSP00000434353.1:n.*920T>G
NM_000543.4:c.*193T>G	NP_000534.3:n.*193T>G
NM_001007593.2:c.*193T>G	NP_001007594.2:n.*193T>G
XM_011520303.1:c.*193T>G	XP_011518605.1:n.*193T>G
NM_001318087.1:c.*582T>G	NP_001305016.1:n.*582T>G
NM_001318088.1:c.*193T>G	NP_001305017.1:n.*193T>G
NM_001365135.1:c.*193T>G	NP_001352064.1:n.*193T>G
NR_027400.2:n.2102T>G
NR_134502.1:n.1641T>G
XR_001747940.2:n.2274T>G
XR_002957158.1:n.2456T>G
NM_000543.5:c.*193T>G MANE Select	NP_000534.3:n.*193T>G
NM_001007593.3:c.*193T>G	NP_001007594.2:n.*193T>G
NM_001318087.2:c.*582T>G	NP_001305016.1:n.*582T>G
NM_001318088.2:c.*193T>G	NP_001305017.1:n.*193T>G
NM_001365135.2:c.*193T>G	NP_001352064.1:n.*193T>G
NR_027400.3:n.2042T>G
NR_134502.2:n.1581T>G