Canonical Allele Identifier: CA217299941

Gene: SMPD1

Linked Data

• dbSNP Id: rs372541887
• gnomAD v3: 11-6392483-T-C
• gnomAD v4: 11-6392483-T-C
• MyVariant Identifiers: chr11:g.6413713T>C (hg19) ; chr11:g.6392483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392483T>C , CM000673.2:g.6392483T>C	GRCh38
NC_000011.9:g.6413713T>C , CM000673.1:g.6413713T>C	GRCh37
NC_000011.8:g.6370289T>C	NCBI36
NG_011780.1:g.7059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+327T>C MANE Select	ENSP00000340409.4:n.1091+327T>C
ENST00000342245.8:c.1091+327T>C	ENSP00000340409.4:n.1091+327T>C
ENST00000526280.1:c.320+287T>C
ENST00000527275.5:c.1088+327T>C	ENSP00000435350.1:n.1088+327T>C
ENST00000531303.5:c.439-733T>C	ENSP00000432625.1:n.439-733T>C
ENST00000533123.5:c.1091+327T>C	ENSP00000435950.1:n.1091+327T>C
ENST00000534405.5:c.1131+287T>C	ENSP00000434353.1:n.1131+287T>C
NM_000543.4:c.1091+327T>C	NP_000534.3:n.1091+327T>C
NM_001007593.2:c.1088+327T>C	NP_001007594.2:n.1088+327T>C
XM_005253075.3:c.1091+327T>C	XP_005253132.1:n.1091+327T>C
XM_011520303.1:c.1131+287T>C	XP_011518605.1:n.1131+287T>C
XM_011520304.1:c.1131+287T>C	XP_011518606.1:n.1131+287T>C
XR_930886.1:n.1429+287T>C
NM_001318087.1:c.1091+327T>C	NP_001305016.1:n.1091+327T>C
NM_001318088.1:c.170+287T>C	NP_001305017.1:n.170+287T>C
NM_001365135.1:c.1131+287T>C	NP_001352064.1:n.1131+287T>C
NR_027400.2:n.1276+327T>C
NR_134502.1:n.624-733T>C
XM_011520304.2:c.1131+287T>C	XP_011518606.1:n.1131+287T>C
XR_001747940.2:n.1256+287T>C
XR_002957158.1:n.1256+287T>C
NM_000543.5:c.1091+327T>C MANE Select	NP_000534.3:n.1091+327T>C
NM_001007593.3:c.1088+327T>C	NP_001007594.2:n.1088+327T>C
NM_001318087.2:c.1091+327T>C	NP_001305016.1:n.1091+327T>C
NM_001318088.2:c.170+287T>C	NP_001305017.1:n.170+287T>C
NM_001365135.2:c.1131+287T>C	NP_001352064.1:n.1131+287T>C
NR_027400.3:n.1216+327T>C
NR_134502.2:n.564-733T>C