Canonical Allele Identifier: CA379371088

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391889-T-C
• MyVariant Identifiers: chr11:g.6413119T>C (hg19) ; chr11:g.6391889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391889T>C , CM000673.2:g.6391889T>C	GRCh38
NC_000011.9:g.6413119T>C , CM000673.1:g.6413119T>C	GRCh37
NC_000011.8:g.6369695T>C	NCBI36
NG_011780.1:g.6465T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.824T>C MANE Select	ENSP00000340409.4:p.Val275Ala
ENST00000342245.8:c.824T>C	ENSP00000340409.4:p.Val275Ala
ENST00000526280.1:c.13T>C
ENST00000527275.5:c.821T>C	ENSP00000435350.1:p.Val274Ala
ENST00000530395.1:c.5T>C	ENSP00000431479.1:p.Val2Ala
ENST00000531303.5:c.438+386T>C	ENSP00000432625.1:n.438+386T>C
ENST00000533123.5:c.824T>C	ENSP00000435950.1:p.Val275Ala
ENST00000533196.1:n.375-117T>C
ENST00000534405.5:c.824T>C	ENSP00000434353.1:p.Val275Ala
NM_000543.4:c.824T>C	NP_000534.3:p.Val275Ala
NM_001007593.2:c.821T>C	NP_001007594.2:p.Val274Ala
XM_005253075.3:c.824T>C	XP_005253132.1:p.Val275Ala
XM_011520303.1:c.824T>C	XP_011518605.1:p.Val275Ala
XM_011520304.1:c.824T>C	XP_011518606.1:p.Val275Ala
XR_930886.1:n.1122T>C
NM_001318087.1:c.824T>C	NP_001305016.1:p.Val275Ala
NM_001318088.1:c.-138T>C	NP_001305017.1:n.-138T>C
NM_001365135.1:c.824T>C	NP_001352064.1:p.Val275Ala
NR_027400.2:n.1009T>C
NR_134502.1:n.623+386T>C
XM_011520304.2:c.824T>C	XP_011518606.1:p.Val275Ala
XR_001747940.2:n.949T>C
XR_002957158.1:n.949T>C
NM_000543.5:c.824T>C MANE Select	NP_000534.3:p.Val275Ala
NM_001007593.3:c.821T>C	NP_001007594.2:p.Val274Ala
NM_001318087.2:c.824T>C	NP_001305016.1:p.Val275Ala
NM_001318088.2:c.-138T>C	NP_001305017.1:n.-138T>C
NM_001365135.2:c.824T>C	NP_001352064.1:p.Val275Ala
NR_027400.3:n.949T>C
NR_134502.2:n.563+386T>C