Canonical Allele Identifier: CA5852738

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1628611
• ClinVar RCV Id: RCV002114476
• dbSNP Id: rs781107025
• ExAC: 11:6413333 G / T
• gnomAD v2: 11-6413333-G-T
• gnomAD v3: 11-6392103-G-T
• gnomAD v4: 11-6392103-G-T
• MyVariant Identifiers: chr11:g.6413333G>T (hg19) ; chr11:g.6392103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392103G>T , CM000673.2:g.6392103G>T	GRCh38
NC_000011.9:g.6413333G>T , CM000673.1:g.6413333G>T	GRCh37
NC_000011.8:g.6369909G>T	NCBI36
NG_011780.1:g.6679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1038G>T MANE Select	ENSP00000340409.4:p.Ala346=
ENST00000342245.8:c.1038G>T	ENSP00000340409.4:p.Ala346=
ENST00000526280.1:c.227G>T
ENST00000527275.5:c.1035G>T	ENSP00000435350.1:p.Ala345=
ENST00000531303.5:c.438+600G>T	ENSP00000432625.1:n.438+600G>T
ENST00000533123.5:c.1038G>T	ENSP00000435950.1:p.Ala346=
ENST00000534405.5:c.1038G>T	ENSP00000434353.1:p.Ala346=
NM_000543.4:c.1038G>T	NP_000534.3:p.Ala346=
NM_001007593.2:c.1035G>T	NP_001007594.2:p.Ala345=
XM_005253075.3:c.1038G>T	XP_005253132.1:p.Ala346=
XM_011520303.1:c.1038G>T	XP_011518605.1:p.Ala346=
XM_011520304.1:c.1038G>T	XP_011518606.1:p.Ala346=
XR_930886.1:n.1336G>T
NM_001318087.1:c.1038G>T	NP_001305016.1:p.Ala346=
NM_001318088.1:c.77G>T	NP_001305017.1:p.Arg26Leu
NM_001365135.1:c.1038G>T	NP_001352064.1:p.Ala346=
NR_027400.2:n.1223G>T
NR_134502.1:n.623+600G>T
XM_011520304.2:c.1038G>T	XP_011518606.1:p.Ala346=
XR_001747940.2:n.1163G>T
XR_002957158.1:n.1163G>T
NM_000543.5:c.1038G>T MANE Select	NP_000534.3:p.Ala346=
NM_001007593.3:c.1035G>T	NP_001007594.2:p.Ala345=
NM_001318087.2:c.1038G>T	NP_001305016.1:p.Ala346=
NM_001318088.2:c.77G>T	NP_001305017.1:p.Arg26Leu
NM_001365135.2:c.1038G>T	NP_001352064.1:p.Ala346=
NR_027400.3:n.1163G>T
NR_134502.2:n.563+600G>T