Canonical Allele Identifier: CA2612223320

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393766-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393766A>C , CM000673.2:g.6393766A>C	GRCh38
NC_000011.9:g.6414996A>C , CM000673.1:g.6414996A>C	GRCh37
NC_000011.8:g.6371572A>C	NCBI36
NG_011780.1:g.8342A>C
NG_029615.1:g.30649T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1340+73A>C MANE Select	ENSP00000340409.4:n.1340+73A>C
ENST00000342245.8:c.1340+73A>C	ENSP00000340409.4:n.1340+73A>C
ENST00000526280.1:c.397+73A>C
ENST00000527275.5:c.1337+73A>C	ENSP00000435350.1:n.1337+73A>C
ENST00000531303.5:c.*171+73A>C	ENSP00000432625.1:n.*171+73A>C
ENST00000531336.1:n.172+73A>C
ENST00000532367.1:n.176+73A>C
ENST00000533123.5:c.*67+73A>C	ENSP00000435950.1:n.*67+73A>C
ENST00000534405.5:c.*171+73A>C	ENSP00000434353.1:n.*171+73A>C
NM_000543.4:c.1340+73A>C	NP_000534.3:n.1340+73A>C
NM_001007593.2:c.1337+73A>C	NP_001007594.2:n.1337+73A>C
XM_005253075.3:c.1340+73A>C	XP_005253132.1:n.1340+73A>C
XM_011520303.1:c.1208+73A>C	XP_011518605.1:n.1208+73A>C
XM_011520304.1:c.1208+73A>C	XP_011518606.1:n.1208+73A>C
XR_930886.1:n.1678+73A>C
NM_001318087.1:c.1340+73A>C	NP_001305016.1:n.1340+73A>C
NM_001318088.1:c.419+73A>C	NP_001305017.1:n.419+73A>C
NM_001365135.1:c.1208+73A>C	NP_001352064.1:n.1208+73A>C
NR_027400.2:n.1353+73A>C
NR_134502.1:n.872+73A>C
XM_011520304.2:c.1208+73A>C	XP_011518606.1:n.1208+73A>C
XR_001747940.2:n.1505+73A>C
XR_002957158.1:n.1578A>C
NM_000543.5:c.1340+73A>C MANE Select	NP_000534.3:n.1340+73A>C
NM_001007593.3:c.1337+73A>C	NP_001007594.2:n.1337+73A>C
NM_001318087.2:c.1340+73A>C	NP_001305016.1:n.1340+73A>C
NM_001318088.2:c.419+73A>C	NP_001305017.1:n.419+73A>C
NM_001365135.2:c.1208+73A>C	NP_001352064.1:n.1208+73A>C
NR_027400.3:n.1293+73A>C
NR_134502.2:n.812+73A>C