Canonical Allele Identifier: CA472909910

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393652-T-C
• MyVariant Identifiers: chr11:g.6414882T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393652T>C , CM000673.2:g.6393652T>C	GRCh38
NC_000011.9:g.6414882T>C , CM000673.1:g.6414882T>C	GRCh37
NC_000011.8:g.6371458T>C	NCBI36
NG_011780.1:g.8228T>C
NG_029615.1:g.30763A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1299T>C MANE Select	ENSP00000340409.4:p.Cys433=
ENST00000342245.8:c.1299T>C	ENSP00000340409.4:p.Cys433=
ENST00000526280.1:c.356T>C
ENST00000527275.5:c.1296T>C	ENSP00000435350.1:p.Cys432=
ENST00000531303.5:c.*130T>C	ENSP00000432625.1:n.*130T>C
ENST00000531336.1:n.131T>C
ENST00000532367.1:n.135T>C
ENST00000533123.5:c.*26T>C	ENSP00000435950.1:n.*26T>C
ENST00000534405.5:c.*130T>C	ENSP00000434353.1:n.*130T>C
NM_000543.4:c.1299T>C	NP_000534.3:p.Cys433=
NM_001007593.2:c.1296T>C	NP_001007594.2:p.Cys432=
XM_005253075.3:c.1299T>C	XP_005253132.1:p.Cys433=
XM_011520303.1:c.1167T>C	XP_011518605.1:p.Cys389=
XM_011520304.1:c.1167T>C	XP_011518606.1:p.Cys389=
XR_930886.1:n.1637T>C
NM_001318087.1:c.1299T>C	NP_001305016.1:p.Cys433=
NM_001318088.1:c.378T>C	NP_001305017.1:p.Cys126=
NM_001365135.1:c.1167T>C	NP_001352064.1:p.Cys389=
NR_027400.2:n.1312T>C
NR_134502.1:n.831T>C
XM_011520304.2:c.1167T>C	XP_011518606.1:p.Cys389=
XR_001747940.2:n.1464T>C
XR_002957158.1:n.1464T>C
NM_000543.5:c.1299T>C MANE Select	NP_000534.3:p.Cys433=
NM_001007593.3:c.1296T>C	NP_001007594.2:p.Cys432=
NM_001318087.2:c.1299T>C	NP_001305016.1:p.Cys433=
NM_001318088.2:c.378T>C	NP_001305017.1:p.Cys126=
NM_001365135.2:c.1167T>C	NP_001352064.1:p.Cys389=
NR_027400.3:n.1252T>C
NR_134502.2:n.771T>C