Canonical Allele Identifier: CA2528874735

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134004102
• gnomAD v3: 11-6390539-C-T
• gnomAD v4: 11-6390539-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390539C>T , CM000673.2:g.6390539C>T	GRCh38
NC_000011.9:g.6411769C>T , CM000673.1:g.6411769C>T	GRCh37
NC_000011.8:g.6368345C>T	NCBI36
NG_011780.1:g.5115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-60C>T MANE Select	ENSP00000340409.4:n.-60C>T
ENST00000342245.8:c.-60C>T	ENSP00000340409.4:n.-60C>T
ENST00000527275.5:c.-60C>T	ENSP00000435350.1:n.-60C>T
ENST00000530395.1:c.-196C>T	ENSP00000431479.1:n.-196C>T
ENST00000533123.5:c.-60C>T	ENSP00000435950.1:n.-60C>T
ENST00000533196.1:n.100C>T
ENST00000534405.5:c.-60C>T	ENSP00000434353.1:n.-60C>T
NM_000543.4:c.-60C>T	NP_000534.3:n.-60C>T
NM_001007593.2:c.-60C>T	NP_001007594.2:n.-60C>T
XM_005253075.3:c.-60C>T	XP_005253132.1:n.-60C>T
XM_011520303.1:c.-60C>T	XP_011518605.1:n.-60C>T
XM_011520304.1:c.-60C>T	XP_011518606.1:n.-60C>T
XR_930886.1:n.239C>T
NM_001318087.1:c.-60C>T	NP_001305016.1:n.-60C>T
NM_001318088.1:c.-1021C>T	NP_001305017.1:n.-1021C>T
NM_001365135.1:c.-60C>T	NP_001352064.1:n.-60C>T
NR_027400.2:n.126C>T
NR_134502.1:n.126C>T
XM_011520304.2:c.-60C>T	XP_011518606.1:n.-60C>T
XR_001747940.2:n.66C>T
XR_002957158.1:n.66C>T
NM_000543.5:c.-60C>T MANE Select	NP_000534.3:n.-60C>T
NM_001007593.3:c.-60C>T	NP_001007594.2:n.-60C>T
NM_001318087.2:c.-60C>T	NP_001305016.1:n.-60C>T
NM_001318088.2:c.-1021C>T	NP_001305017.1:n.-1021C>T
NM_001365135.2:c.-60C>T	NP_001352064.1:n.-60C>T
NR_027400.3:n.66C>T
NR_134502.2:n.66C>T