Canonical Allele Identifier: CA2612223328

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393784-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393784T>C , CM000673.2:g.6393784T>C	GRCh38
NC_000011.9:g.6415014T>C , CM000673.1:g.6415014T>C	GRCh37
NC_000011.8:g.6371590T>C	NCBI36
NG_011780.1:g.8360T>C
NG_029615.1:g.30631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1340+91T>C MANE Select	ENSP00000340409.4:n.1340+91T>C
ENST00000342245.8:c.1340+91T>C	ENSP00000340409.4:n.1340+91T>C
ENST00000526280.1:c.397+91T>C
ENST00000527275.5:c.1337+91T>C	ENSP00000435350.1:n.1337+91T>C
ENST00000531303.5:c.*171+91T>C	ENSP00000432625.1:n.*171+91T>C
ENST00000531336.1:n.172+91T>C
ENST00000532367.1:n.176+91T>C
ENST00000533123.5:c.*67+91T>C	ENSP00000435950.1:n.*67+91T>C
ENST00000534405.5:c.*171+91T>C	ENSP00000434353.1:n.*171+91T>C
NM_000543.4:c.1340+91T>C	NP_000534.3:n.1340+91T>C
NM_001007593.2:c.1337+91T>C	NP_001007594.2:n.1337+91T>C
XM_005253075.3:c.1340+91T>C	XP_005253132.1:n.1340+91T>C
XM_011520303.1:c.1208+91T>C	XP_011518605.1:n.1208+91T>C
XM_011520304.1:c.1208+91T>C	XP_011518606.1:n.1208+91T>C
XR_930886.1:n.1678+91T>C
NM_001318087.1:c.1340+91T>C	NP_001305016.1:n.1340+91T>C
NM_001318088.1:c.419+91T>C	NP_001305017.1:n.419+91T>C
NM_001365135.1:c.1208+91T>C	NP_001352064.1:n.1208+91T>C
NR_027400.2:n.1353+91T>C
NR_134502.1:n.872+91T>C
XM_011520304.2:c.1208+91T>C	XP_011518606.1:n.1208+91T>C
XR_001747940.2:n.1505+91T>C
XR_002957158.1:n.1596T>C
NM_000543.5:c.1340+91T>C MANE Select	NP_000534.3:n.1340+91T>C
NM_001007593.3:c.1337+91T>C	NP_001007594.2:n.1337+91T>C
NM_001318087.2:c.1340+91T>C	NP_001305016.1:n.1340+91T>C
NM_001318088.2:c.419+91T>C	NP_001305017.1:n.419+91T>C
NM_001365135.2:c.1208+91T>C	NP_001352064.1:n.1208+91T>C
NR_027400.3:n.1293+91T>C
NR_134502.2:n.812+91T>C