Canonical Allele Identifier: CA2612224221

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394728-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394728G>T , CM000673.2:g.6394728G>T	GRCh38
NC_000011.9:g.6415958G>T , CM000673.1:g.6415958G>T	GRCh37
NC_000011.8:g.6372534G>T	NCBI36
NG_011780.1:g.9304G>T
NG_029615.1:g.29687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*121G>T MANE Select	ENSP00000340409.4:n.*121G>T
ENST00000342245.8:c.*121G>T	ENSP00000340409.4:n.*121G>T
ENST00000526280.1:c.1074G>T
ENST00000527275.5:c.*121G>T	ENSP00000435350.1:n.*121G>T
ENST00000531303.5:c.*868G>T	ENSP00000432625.1:n.*868G>T
ENST00000533123.5:c.*744G>T	ENSP00000435950.1:n.*744G>T
ENST00000534405.5:c.*848G>T	ENSP00000434353.1:n.*848G>T
NM_000543.4:c.*121G>T	NP_000534.3:n.*121G>T
NM_001007593.2:c.*121G>T	NP_001007594.2:n.*121G>T
XM_011520303.1:c.*121G>T	XP_011518605.1:n.*121G>T
NM_001318087.1:c.*510G>T	NP_001305016.1:n.*510G>T
NM_001318088.1:c.*121G>T	NP_001305017.1:n.*121G>T
NM_001365135.1:c.*121G>T	NP_001352064.1:n.*121G>T
NR_027400.2:n.2030G>T
NR_134502.1:n.1569G>T
XR_001747940.2:n.2202G>T
XR_002957158.1:n.2384G>T
NM_000543.5:c.*121G>T MANE Select	NP_000534.3:n.*121G>T
NM_001007593.3:c.*121G>T	NP_001007594.2:n.*121G>T
NM_001318087.2:c.*510G>T	NP_001305016.1:n.*510G>T
NM_001318088.2:c.*121G>T	NP_001305017.1:n.*121G>T
NM_001365135.2:c.*121G>T	NP_001352064.1:n.*121G>T
NR_027400.3:n.1970G>T
NR_134502.2:n.1509G>T