Canonical Allele Identifier: CA238625

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 193116
• ClinVar RCV Id: RCV000173159 ; RCV002054038
• dbSNP Id: rs200763765
• ExAC: 11:6411966 G / T
• gnomAD v2: 11-6411966-G-T
• gnomAD v4: 11-6390736-G-T
• MyVariant Identifiers: chr11:g.6411966G>T (hg19) ; chr11:g.6390736G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390736G>T , CM000673.2:g.6390736G>T	GRCh38
NC_000011.9:g.6411966G>T , CM000673.1:g.6411966G>T	GRCh37
NC_000011.8:g.6368542G>T	NCBI36
NG_011780.1:g.5312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.138G>T MANE Select	ENSP00000340409.4:p.Ala46=
ENST00000342245.8:c.138G>T	ENSP00000340409.4:p.Ala46=
ENST00000527275.5:c.138G>T	ENSP00000435350.1:p.Ala46=
ENST00000530395.1:c.-96+97G>T	ENSP00000431479.1:n.-96+97G>T
ENST00000531303.5:c.138G>T	ENSP00000432625.1:p.Ala46=
ENST00000533123.5:c.138G>T	ENSP00000435950.1:p.Ala46=
ENST00000533196.1:n.297G>T
ENST00000534405.5:c.138G>T	ENSP00000434353.1:p.Ala46=
NM_000543.4:c.138G>T	NP_000534.3:p.Ala46=
NM_001007593.2:c.138G>T	NP_001007594.2:p.Ala46=
XM_005253075.3:c.138G>T	XP_005253132.1:p.Ala46=
XM_011520303.1:c.138G>T	XP_011518605.1:p.Ala46=
XM_011520304.1:c.138G>T	XP_011518606.1:p.Ala46=
XR_930886.1:n.436G>T
NM_001318087.1:c.138G>T	NP_001305016.1:p.Ala46=
NM_001318088.1:c.-824G>T	NP_001305017.1:n.-824G>T
NM_001365135.1:c.138G>T	NP_001352064.1:p.Ala46=
NR_027400.2:n.323G>T
NR_134502.1:n.323G>T
XM_011520304.2:c.138G>T	XP_011518606.1:p.Ala46=
XR_001747940.2:n.263G>T
XR_002957158.1:n.263G>T
NM_000543.5:c.138G>T MANE Select	NP_000534.3:p.Ala46=
NM_001007593.3:c.138G>T	NP_001007594.2:p.Ala46=
NM_001318087.2:c.138G>T	NP_001305016.1:p.Ala46=
NM_001318088.2:c.-824G>T	NP_001305017.1:n.-824G>T
NM_001365135.2:c.138G>T	NP_001352064.1:p.Ala46=
NR_027400.3:n.263G>T
NR_134502.2:n.263G>T