Canonical Allele Identifier: CA5852778

Gene: SMPD1

Linked Data

• dbSNP Id: rs763916604
• ExAC: 11:6414401 C / T
• gnomAD v2: 11-6414401-C-T
• gnomAD v3: 11-6393171-C-T
• gnomAD v4: 11-6393171-C-T
• MyVariant Identifiers: chr11:g.6414401C>T (hg19) ; chr11:g.6393171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393171C>T , CM000673.2:g.6393171C>T	GRCh38
NC_000011.9:g.6414401C>T , CM000673.1:g.6414401C>T	GRCh37
NC_000011.8:g.6370977C>T	NCBI36
NG_011780.1:g.7747C>T
NG_029615.1:g.31244G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-45C>T MANE Select	ENSP00000340409.4:n.1092-45C>T
ENST00000342245.8:c.1092-45C>T	ENSP00000340409.4:n.1092-45C>T
ENST00000526280.1:c.321-446C>T
ENST00000527275.5:c.1089-45C>T	ENSP00000435350.1:n.1089-45C>T
ENST00000531303.5:c.439-45C>T	ENSP00000432625.1:n.439-45C>T
ENST00000533123.5:c.1092-446C>T	ENSP00000435950.1:n.1092-446C>T
ENST00000534405.5:c.1132-45C>T	ENSP00000434353.1:n.1132-45C>T
NM_000543.4:c.1092-45C>T	NP_000534.3:n.1092-45C>T
NM_001007593.2:c.1089-45C>T	NP_001007594.2:n.1089-45C>T
XM_005253075.3:c.1092-45C>T	XP_005253132.1:n.1092-45C>T
XM_011520303.1:c.1132-446C>T	XP_011518605.1:n.1132-446C>T
XM_011520304.1:c.1132-446C>T	XP_011518606.1:n.1132-446C>T
XR_930886.1:n.1430-45C>T
NM_001318087.1:c.1092-45C>T	NP_001305016.1:n.1092-45C>T
NM_001318088.1:c.171-45C>T	NP_001305017.1:n.171-45C>T
NM_001365135.1:c.1132-446C>T	NP_001352064.1:n.1132-446C>T
NR_027400.2:n.1277-446C>T
NR_134502.1:n.624-45C>T
XM_011520304.2:c.1132-446C>T	XP_011518606.1:n.1132-446C>T
XR_001747940.2:n.1257-45C>T
XR_002957158.1:n.1257-45C>T
NM_000543.5:c.1092-45C>T MANE Select	NP_000534.3:n.1092-45C>T
NM_001007593.3:c.1089-45C>T	NP_001007594.2:n.1089-45C>T
NM_001318087.2:c.1092-45C>T	NP_001305016.1:n.1092-45C>T
NM_001318088.2:c.171-45C>T	NP_001305017.1:n.171-45C>T
NM_001365135.2:c.1132-446C>T	NP_001352064.1:n.1132-446C>T
NR_027400.3:n.1217-446C>T
NR_134502.2:n.564-45C>T