Canonical Allele Identifier: CA2574738735

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394661-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394661C>A , CM000673.2:g.6394661C>A	GRCh38
NC_000011.9:g.6415891C>A , CM000673.1:g.6415891C>A	GRCh37
NC_000011.8:g.6372467C>A	NCBI36
NG_011780.1:g.9237C>A
NG_029615.1:g.29754G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*54C>A MANE Select	ENSP00000340409.4:n.*54C>A
ENST00000342245.8:c.*54C>A	ENSP00000340409.4:n.*54C>A
ENST00000526280.1:c.1007C>A
ENST00000527275.5:c.*54C>A	ENSP00000435350.1:n.*54C>A
ENST00000531303.5:c.*801C>A	ENSP00000432625.1:n.*801C>A
ENST00000533123.5:c.*677C>A	ENSP00000435950.1:n.*677C>A
ENST00000534405.5:c.*781C>A	ENSP00000434353.1:n.*781C>A
NM_000543.4:c.*54C>A	NP_000534.3:n.*54C>A
NM_001007593.2:c.*54C>A	NP_001007594.2:n.*54C>A
XM_011520303.1:c.*54C>A	XP_011518605.1:n.*54C>A
NM_001318087.1:c.*443C>A	NP_001305016.1:n.*443C>A
NM_001318088.1:c.*54C>A	NP_001305017.1:n.*54C>A
NM_001365135.1:c.*54C>A	NP_001352064.1:n.*54C>A
NR_027400.2:n.1963C>A
NR_134502.1:n.1502C>A
XR_001747940.2:n.2135C>A
XR_002957158.1:n.2317C>A
NM_000543.5:c.*54C>A MANE Select	NP_000534.3:n.*54C>A
NM_001007593.3:c.*54C>A	NP_001007594.2:n.*54C>A
NM_001318087.2:c.*443C>A	NP_001305016.1:n.*443C>A
NM_001318088.2:c.*54C>A	NP_001305017.1:n.*54C>A
NM_001365135.2:c.*54C>A	NP_001352064.1:n.*54C>A
NR_027400.3:n.1903C>A
NR_134502.2:n.1442C>A