Canonical Allele Identifier: CA2612224428

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394894-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394894A>C , CM000673.2:g.6394894A>C	GRCh38
NC_000011.9:g.6416124A>C , CM000673.1:g.6416124A>C	GRCh37
NC_000011.8:g.6372700A>C	NCBI36
NG_011780.1:g.9470A>C
NG_029615.1:g.29521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*287A>C MANE Select	ENSP00000340409.4:n.*287A>C
ENST00000342245.8:c.*287A>C	ENSP00000340409.4:n.*287A>C
ENST00000526280.1:c.1240A>C
ENST00000533123.5:c.*910A>C	ENSP00000435950.1:n.*910A>C
ENST00000534405.5:c.*1014A>C	ENSP00000434353.1:n.*1014A>C
NM_000543.4:c.*287A>C	NP_000534.3:n.*287A>C
NM_001007593.2:c.*287A>C	NP_001007594.2:n.*287A>C
XM_011520303.1:c.*287A>C	XP_011518605.1:n.*287A>C
NM_001318087.1:c.*676A>C	NP_001305016.1:n.*676A>C
NM_001318088.1:c.*287A>C	NP_001305017.1:n.*287A>C
NM_001365135.1:c.*287A>C	NP_001352064.1:n.*287A>C
NR_027400.2:n.2196A>C
NR_134502.1:n.1735A>C
XR_001747940.2:n.2368A>C
XR_002957158.1:n.2550A>C
NM_000543.5:c.*287A>C MANE Select	NP_000534.3:n.*287A>C
NM_001007593.3:c.*287A>C	NP_001007594.2:n.*287A>C
NM_001318087.2:c.*676A>C	NP_001305016.1:n.*676A>C
NM_001318088.2:c.*287A>C	NP_001305017.1:n.*287A>C
NM_001365135.2:c.*287A>C	NP_001352064.1:n.*287A>C
NR_027400.3:n.2136A>C
NR_134502.2:n.1675A>C