Canonical Allele Identifier: CA2612224145

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394628-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394628G>C , CM000673.2:g.6394628G>C	GRCh38
NC_000011.9:g.6415858G>C , CM000673.1:g.6415858G>C	GRCh37
NC_000011.8:g.6372434G>C	NCBI36
NG_011780.1:g.9204G>C
NG_029615.1:g.29787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*21G>C MANE Select	ENSP00000340409.4:n.*21G>C
ENST00000342245.8:c.*21G>C	ENSP00000340409.4:n.*21G>C
ENST00000526280.1:c.974G>C
ENST00000527275.5:c.*21G>C	ENSP00000435350.1:n.*21G>C
ENST00000531303.5:c.*768G>C	ENSP00000432625.1:n.*768G>C
ENST00000533123.5:c.*644G>C	ENSP00000435950.1:n.*644G>C
ENST00000534405.5:c.*748G>C	ENSP00000434353.1:n.*748G>C
NM_000543.4:c.*21G>C	NP_000534.3:n.*21G>C
NM_001007593.2:c.*21G>C	NP_001007594.2:n.*21G>C
XM_011520303.1:c.*21G>C	XP_011518605.1:n.*21G>C
NM_001318087.1:c.*410G>C	NP_001305016.1:n.*410G>C
NM_001318088.1:c.*21G>C	NP_001305017.1:n.*21G>C
NM_001365135.1:c.*21G>C	NP_001352064.1:n.*21G>C
NR_027400.2:n.1930G>C
NR_134502.1:n.1469G>C
XR_001747940.2:n.2102G>C
XR_002957158.1:n.2284G>C
NM_000543.5:c.*21G>C MANE Select	NP_000534.3:n.*21G>C
NM_001007593.3:c.*21G>C	NP_001007594.2:n.*21G>C
NM_001318087.2:c.*410G>C	NP_001305016.1:n.*410G>C
NM_001318088.2:c.*21G>C	NP_001305017.1:n.*21G>C
NM_001365135.2:c.*21G>C	NP_001352064.1:n.*21G>C
NR_027400.3:n.1870G>C
NR_134502.2:n.1409G>C