Canonical Allele Identifier: CA379371284

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413217T>C (hg19) ; chr11:g.6391987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391987T>C , CM000673.2:g.6391987T>C	GRCh38
NC_000011.9:g.6413217T>C , CM000673.1:g.6413217T>C	GRCh37
NC_000011.8:g.6369793T>C	NCBI36
NG_011780.1:g.6563T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.922T>C MANE Select	ENSP00000340409.4:p.Phe308Leu
ENST00000342245.8:c.922T>C	ENSP00000340409.4:p.Phe308Leu
ENST00000526280.1:c.111T>C
ENST00000527275.5:c.919T>C	ENSP00000435350.1:p.Phe307Leu
ENST00000530395.1:c.103T>C	ENSP00000431479.1:p.Phe35Leu
ENST00000531303.5:c.438+484T>C	ENSP00000432625.1:n.438+484T>C
ENST00000533123.5:c.922T>C	ENSP00000435950.1:p.Phe308Leu
ENST00000533196.1:n.375-19T>C
ENST00000534405.5:c.922T>C	ENSP00000434353.1:p.Phe308Leu
NM_000543.4:c.922T>C	NP_000534.3:p.Phe308Leu
NM_001007593.2:c.919T>C	NP_001007594.2:p.Phe307Leu
XM_005253075.3:c.922T>C	XP_005253132.1:p.Phe308Leu
XM_011520303.1:c.922T>C	XP_011518605.1:p.Phe308Leu
XM_011520304.1:c.922T>C	XP_011518606.1:p.Phe308Leu
XR_930886.1:n.1220T>C
NM_001318087.1:c.922T>C	NP_001305016.1:p.Phe308Leu
NM_001318088.1:c.-40T>C	NP_001305017.1:n.-40T>C
NM_001365135.1:c.922T>C	NP_001352064.1:p.Phe308Leu
NR_027400.2:n.1107T>C
NR_134502.1:n.623+484T>C
XM_011520304.2:c.922T>C	XP_011518606.1:p.Phe308Leu
XR_001747940.2:n.1047T>C
XR_002957158.1:n.1047T>C
NM_000543.5:c.922T>C MANE Select	NP_000534.3:p.Phe308Leu
NM_001007593.3:c.919T>C	NP_001007594.2:p.Phe307Leu
NM_001318087.2:c.922T>C	NP_001305016.1:p.Phe308Leu
NM_001318088.2:c.-40T>C	NP_001305017.1:n.-40T>C
NM_001365135.2:c.922T>C	NP_001352064.1:p.Phe308Leu
NR_027400.3:n.1047T>C
NR_134502.2:n.563+484T>C