Canonical Allele Identifier: CA379371020

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413086G>C (hg19) ; chr11:g.6391856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391856G>C , CM000673.2:g.6391856G>C	GRCh38
NC_000011.9:g.6413086G>C , CM000673.1:g.6413086G>C	GRCh37
NC_000011.8:g.6369662G>C	NCBI36
NG_011780.1:g.6432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.791G>C MANE Select	ENSP00000340409.4:p.Ser264Thr
ENST00000342245.8:c.791G>C	ENSP00000340409.4:p.Ser264Thr
ENST00000527275.5:c.788G>C	ENSP00000435350.1:p.Ser263Thr
ENST00000530395.1:c.-29G>C	ENSP00000431479.1:n.-29G>C
ENST00000531303.5:c.438+353G>C	ENSP00000432625.1:n.438+353G>C
ENST00000533123.5:c.791G>C	ENSP00000435950.1:p.Ser264Thr
ENST00000533196.1:n.375-150G>C
ENST00000534405.5:c.791G>C	ENSP00000434353.1:p.Ser264Thr
NM_000543.4:c.791G>C	NP_000534.3:p.Ser264Thr
NM_001007593.2:c.788G>C	NP_001007594.2:p.Ser263Thr
XM_005253075.3:c.791G>C	XP_005253132.1:p.Ser264Thr
XM_011520303.1:c.791G>C	XP_011518605.1:p.Ser264Thr
XM_011520304.1:c.791G>C	XP_011518606.1:p.Ser264Thr
XR_930886.1:n.1089G>C
NM_001318087.1:c.791G>C	NP_001305016.1:p.Ser264Thr
NM_001318088.1:c.-171G>C	NP_001305017.1:n.-171G>C
NM_001365135.1:c.791G>C	NP_001352064.1:p.Ser264Thr
NR_027400.2:n.976G>C
NR_134502.1:n.623+353G>C
XM_011520304.2:c.791G>C	XP_011518606.1:p.Ser264Thr
XR_001747940.2:n.916G>C
XR_002957158.1:n.916G>C
NM_000543.5:c.791G>C MANE Select	NP_000534.3:p.Ser264Thr
NM_001007593.3:c.788G>C	NP_001007594.2:p.Ser263Thr
NM_001318087.2:c.791G>C	NP_001305016.1:p.Ser264Thr
NM_001318088.2:c.-171G>C	NP_001305017.1:n.-171G>C
NM_001365135.2:c.791G>C	NP_001352064.1:p.Ser264Thr
NR_027400.3:n.916G>C
NR_134502.2:n.563+353G>C