Canonical Allele Identifier: CA2612224460

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394913-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394913T>C , CM000673.2:g.6394913T>C	GRCh38
NC_000011.9:g.6416143T>C , CM000673.1:g.6416143T>C	GRCh37
NC_000011.8:g.6372719T>C	NCBI36
NG_011780.1:g.9489T>C
NG_029615.1:g.29502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*306T>C MANE Select	ENSP00000340409.4:n.*306T>C
ENST00000342245.8:c.*306T>C	ENSP00000340409.4:n.*306T>C
ENST00000526280.1:c.1259T>C
ENST00000533123.5:c.*929T>C	ENSP00000435950.1:n.*929T>C
ENST00000534405.5:c.*1033T>C	ENSP00000434353.1:n.*1033T>C
NM_000543.4:c.*306T>C	NP_000534.3:n.*306T>C
NM_001007593.2:c.*306T>C	NP_001007594.2:n.*306T>C
XM_011520303.1:c.*306T>C	XP_011518605.1:n.*306T>C
NM_001318087.1:c.*695T>C	NP_001305016.1:n.*695T>C
NM_001318088.1:c.*306T>C	NP_001305017.1:n.*306T>C
NM_001365135.1:c.*306T>C	NP_001352064.1:n.*306T>C
NR_027400.2:n.2215T>C
NR_134502.1:n.1754T>C
XR_001747940.2:n.2387T>C
XR_002957158.1:n.2569T>C
NM_000543.5:c.*306T>C MANE Select	NP_000534.3:n.*306T>C
NM_001007593.3:c.*306T>C	NP_001007594.2:n.*306T>C
NM_001318087.2:c.*695T>C	NP_001305016.1:n.*695T>C
NM_001318088.2:c.*306T>C	NP_001305017.1:n.*306T>C
NM_001365135.2:c.*306T>C	NP_001352064.1:n.*306T>C
NR_027400.3:n.2155T>C
NR_134502.2:n.1694T>C