Canonical Allele Identifier: CA379371014

Gene: SMPD1

Linked Data

• COSMIC: COSM689713 ; COSM689714
• MyVariant Identifiers: chr11:g.6413084G>C (hg19) ; chr11:g.6391854G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391854G>C , CM000673.2:g.6391854G>C	GRCh38
NC_000011.9:g.6413084G>C , CM000673.1:g.6413084G>C	GRCh37
NC_000011.8:g.6369660G>C	NCBI36
NG_011780.1:g.6430G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.789G>C MANE Select	ENSP00000340409.4:p.Leu263Phe
ENST00000342245.8:c.789G>C	ENSP00000340409.4:p.Leu263Phe
ENST00000527275.5:c.786G>C	ENSP00000435350.1:p.Leu262Phe
ENST00000530395.1:c.-31G>C	ENSP00000431479.1:n.-31G>C
ENST00000531303.5:c.438+351G>C	ENSP00000432625.1:n.438+351G>C
ENST00000533123.5:c.789G>C	ENSP00000435950.1:p.Leu263Phe
ENST00000533196.1:n.375-152G>C
ENST00000534405.5:c.789G>C	ENSP00000434353.1:p.Leu263Phe
NM_000543.4:c.789G>C	NP_000534.3:p.Leu263Phe
NM_001007593.2:c.786G>C	NP_001007594.2:p.Leu262Phe
XM_005253075.3:c.789G>C	XP_005253132.1:p.Leu263Phe
XM_011520303.1:c.789G>C	XP_011518605.1:p.Leu263Phe
XM_011520304.1:c.789G>C	XP_011518606.1:p.Leu263Phe
XR_930886.1:n.1087G>C
NM_001318087.1:c.789G>C	NP_001305016.1:p.Leu263Phe
NM_001318088.1:c.-173G>C	NP_001305017.1:n.-173G>C
NM_001365135.1:c.789G>C	NP_001352064.1:p.Leu263Phe
NR_027400.2:n.974G>C
NR_134502.1:n.623+351G>C
XM_011520304.2:c.789G>C	XP_011518606.1:p.Leu263Phe
XR_001747940.2:n.914G>C
XR_002957158.1:n.914G>C
NM_000543.5:c.789G>C MANE Select	NP_000534.3:p.Leu263Phe
NM_001007593.3:c.786G>C	NP_001007594.2:p.Leu262Phe
NM_001318087.2:c.789G>C	NP_001305016.1:p.Leu263Phe
NM_001318088.2:c.-173G>C	NP_001305017.1:n.-173G>C
NM_001365135.2:c.789G>C	NP_001352064.1:p.Leu263Phe
NR_027400.3:n.914G>C
NR_134502.2:n.563+351G>C