Canonical Allele Identifier: CA597264424

Gene: SMPD1

Linked Data

• dbSNP Id: rs1173566550
• gnomAD v2: 11-6416176-C-T
• gnomAD v3: 11-6394946-C-T
• gnomAD v4: 11-6394946-C-T
• MyVariant Identifiers: chr11:g.6416176C>T (hg19) ; chr11:g.6394946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394946C>T , CM000673.2:g.6394946C>T	GRCh38
NC_000011.9:g.6416176C>T , CM000673.1:g.6416176C>T	GRCh37
NC_000011.8:g.6372752C>T	NCBI36
NG_011780.1:g.9522C>T
NG_029615.1:g.29469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*339C>T MANE Select	ENSP00000340409.4:n.*339C>T
ENST00000342245.8:c.*339C>T	ENSP00000340409.4:n.*339C>T
ENST00000526280.1:c.1292C>T
ENST00000533123.5:c.*962C>T	ENSP00000435950.1:n.*962C>T
ENST00000534405.5:c.*1066C>T	ENSP00000434353.1:n.*1066C>T
NM_000543.4:c.*339C>T	NP_000534.3:n.*339C>T
NM_001007593.2:c.*339C>T	NP_001007594.2:n.*339C>T
XM_011520303.1:c.*339C>T	XP_011518605.1:n.*339C>T
NM_001318087.1:c.*728C>T	NP_001305016.1:n.*728C>T
NM_001318088.1:c.*339C>T	NP_001305017.1:n.*339C>T
NM_001365135.1:c.*339C>T	NP_001352064.1:n.*339C>T
NR_027400.2:n.2248C>T
NR_134502.1:n.1787C>T
XR_001747940.2:n.2420C>T
XR_002957158.1:n.2602C>T
NM_000543.5:c.*339C>T MANE Select	NP_000534.3:n.*339C>T
NM_001007593.3:c.*339C>T	NP_001007594.2:n.*339C>T
NM_001318087.2:c.*728C>T	NP_001305016.1:n.*728C>T
NM_001318088.2:c.*339C>T	NP_001305017.1:n.*339C>T
NM_001365135.2:c.*339C>T	NP_001352064.1:n.*339C>T
NR_027400.3:n.2188C>T
NR_134502.2:n.1727C>T