Canonical Allele Identifier: CA472909627

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1090804
• ClinVar RCV Id: RCV001410088 ; RCV002358917 ; RCV003900405
• dbSNP Id: rs1328127205
• gnomAD v2: 11-6412886-T-C
• gnomAD v4: 11-6391656-T-C
• MyVariant Identifiers: chr11:g.6412886T>C (hg19) ; chr11:g.6391656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391656T>C , CM000673.2:g.6391656T>C	GRCh38
NC_000011.9:g.6412886T>C , CM000673.1:g.6412886T>C	GRCh37
NC_000011.8:g.6369462T>C	NCBI36
NG_011780.1:g.6232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.591T>C MANE Select	ENSP00000340409.4:p.Gly197=
ENST00000342245.8:c.591T>C	ENSP00000340409.4:p.Gly197=
ENST00000527275.5:c.588T>C	ENSP00000435350.1:p.Gly196=
ENST00000530395.1:c.-95-134T>C	ENSP00000431479.1:n.-95-134T>C
ENST00000531303.5:c.438+153T>C	ENSP00000432625.1:n.438+153T>C
ENST00000533123.5:c.591T>C	ENSP00000435950.1:p.Gly197=
ENST00000533196.1:n.375-350T>C
ENST00000534405.5:c.591T>C	ENSP00000434353.1:p.Gly197=
NM_000543.4:c.591T>C	NP_000534.3:p.Gly197=
NM_001007593.2:c.588T>C	NP_001007594.2:p.Gly196=
XM_005253075.3:c.591T>C	XP_005253132.1:p.Gly197=
XM_011520303.1:c.591T>C	XP_011518605.1:p.Gly197=
XM_011520304.1:c.591T>C	XP_011518606.1:p.Gly197=
XR_930886.1:n.889T>C
NM_001318087.1:c.591T>C	NP_001305016.1:p.Gly197=
NM_001318088.1:c.-371T>C	NP_001305017.1:n.-371T>C
NM_001365135.1:c.591T>C	NP_001352064.1:p.Gly197=
NR_027400.2:n.776T>C
NR_134502.1:n.623+153T>C
XM_011520304.2:c.591T>C	XP_011518606.1:p.Gly197=
XR_001747940.2:n.716T>C
XR_002957158.1:n.716T>C
NM_000543.5:c.591T>C MANE Select	NP_000534.3:p.Gly197=
NM_001007593.3:c.588T>C	NP_001007594.2:p.Gly196=
NM_001318087.2:c.591T>C	NP_001305016.1:p.Gly197=
NM_001318088.2:c.-371T>C	NP_001305017.1:n.-371T>C
NM_001365135.2:c.591T>C	NP_001352064.1:p.Gly197=
NR_027400.3:n.716T>C
NR_134502.2:n.563+153T>C