Canonical Allele Identifier: CA2612224392

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394869-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394869C>T , CM000673.2:g.6394869C>T	GRCh38
NC_000011.9:g.6416099C>T , CM000673.1:g.6416099C>T	GRCh37
NC_000011.8:g.6372675C>T	NCBI36
NG_011780.1:g.9445C>T
NG_029615.1:g.29546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*262C>T MANE Select	ENSP00000340409.4:n.*262C>T
ENST00000342245.8:c.*262C>T	ENSP00000340409.4:n.*262C>T
ENST00000526280.1:c.1215C>T
ENST00000533123.5:c.*885C>T	ENSP00000435950.1:n.*885C>T
ENST00000534405.5:c.*989C>T	ENSP00000434353.1:n.*989C>T
NM_000543.4:c.*262C>T	NP_000534.3:n.*262C>T
NM_001007593.2:c.*262C>T	NP_001007594.2:n.*262C>T
XM_011520303.1:c.*262C>T	XP_011518605.1:n.*262C>T
NM_001318087.1:c.*651C>T	NP_001305016.1:n.*651C>T
NM_001318088.1:c.*262C>T	NP_001305017.1:n.*262C>T
NM_001365135.1:c.*262C>T	NP_001352064.1:n.*262C>T
NR_027400.2:n.2171C>T
NR_134502.1:n.1710C>T
XR_001747940.2:n.2343C>T
XR_002957158.1:n.2525C>T
NM_000543.5:c.*262C>T MANE Select	NP_000534.3:n.*262C>T
NM_001007593.3:c.*262C>T	NP_001007594.2:n.*262C>T
NM_001318087.2:c.*651C>T	NP_001305016.1:n.*651C>T
NM_001318088.2:c.*262C>T	NP_001305017.1:n.*262C>T
NM_001365135.2:c.*262C>T	NP_001352064.1:n.*262C>T
NR_027400.3:n.2111C>T
NR_134502.2:n.1650C>T