Canonical Allele Identifier: CA379371279

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413215A>C (hg19) ; chr11:g.6391985A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391985A>C , CM000673.2:g.6391985A>C	GRCh38
NC_000011.9:g.6413215A>C , CM000673.1:g.6413215A>C	GRCh37
NC_000011.8:g.6369791A>C	NCBI36
NG_011780.1:g.6561A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.920A>C MANE Select	ENSP00000340409.4:p.Lys307Thr
ENST00000342245.8:c.920A>C	ENSP00000340409.4:p.Lys307Thr
ENST00000526280.1:c.109A>C
ENST00000527275.5:c.917A>C	ENSP00000435350.1:p.Lys306Thr
ENST00000530395.1:c.101A>C	ENSP00000431479.1:p.Lys34Thr
ENST00000531303.5:c.438+482A>C	ENSP00000432625.1:n.438+482A>C
ENST00000533123.5:c.920A>C	ENSP00000435950.1:p.Lys307Thr
ENST00000533196.1:n.375-21A>C
ENST00000534405.5:c.920A>C	ENSP00000434353.1:p.Lys307Thr
NM_000543.4:c.920A>C	NP_000534.3:p.Lys307Thr
NM_001007593.2:c.917A>C	NP_001007594.2:p.Lys306Thr
XM_005253075.3:c.920A>C	XP_005253132.1:p.Lys307Thr
XM_011520303.1:c.920A>C	XP_011518605.1:p.Lys307Thr
XM_011520304.1:c.920A>C	XP_011518606.1:p.Lys307Thr
XR_930886.1:n.1218A>C
NM_001318087.1:c.920A>C	NP_001305016.1:p.Lys307Thr
NM_001318088.1:c.-42A>C	NP_001305017.1:n.-42A>C
NM_001365135.1:c.920A>C	NP_001352064.1:p.Lys307Thr
NR_027400.2:n.1105A>C
NR_134502.1:n.623+482A>C
XM_011520304.2:c.920A>C	XP_011518606.1:p.Lys307Thr
XR_001747940.2:n.1045A>C
XR_002957158.1:n.1045A>C
NM_000543.5:c.920A>C MANE Select	NP_000534.3:p.Lys307Thr
NM_001007593.3:c.917A>C	NP_001007594.2:p.Lys306Thr
NM_001318087.2:c.920A>C	NP_001305016.1:p.Lys307Thr
NM_001318088.2:c.-42A>C	NP_001305017.1:n.-42A>C
NM_001365135.2:c.920A>C	NP_001352064.1:p.Lys307Thr
NR_027400.3:n.1045A>C
NR_134502.2:n.563+482A>C