Canonical Allele Identifier: CA379376941

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415673A>C (hg19) ; chr11:g.6394443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394443A>C , CM000673.2:g.6394443A>C	GRCh38
NC_000011.9:g.6415673A>C , CM000673.1:g.6415673A>C	GRCh37
NC_000011.8:g.6372249A>C	NCBI36
NG_011780.1:g.9019A>C
NG_029615.1:g.29972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1732A>C MANE Select	ENSP00000340409.4:p.Lys578Gln
ENST00000342245.8:c.1732A>C	ENSP00000340409.4:p.Lys578Gln
ENST00000526280.1:c.789A>C
ENST00000527275.5:c.1729A>C	ENSP00000435350.1:p.Lys577Gln
ENST00000531303.5:c.*583A>C	ENSP00000432625.1:n.*583A>C
ENST00000533123.5:c.*459A>C	ENSP00000435950.1:n.*459A>C
ENST00000534405.5:c.*563A>C	ENSP00000434353.1:n.*563A>C
NM_000543.4:c.1732A>C	NP_000534.3:p.Lys578Gln
NM_001007593.2:c.1729A>C	NP_001007594.2:p.Lys577Gln
XM_005253075.3:c.*225A>C	XP_005253132.1:n.*225A>C
XM_011520303.1:c.1600A>C	XP_011518605.1:p.Lys534Gln
XM_011520304.1:c.*225A>C	XP_011518606.1:n.*225A>C
NM_001318087.1:c.*225A>C	NP_001305016.1:n.*225A>C
NM_001318088.1:c.811A>C	NP_001305017.1:p.Lys271Gln
NM_001365135.1:c.1600A>C	NP_001352064.1:p.Lys534Gln
NR_027400.2:n.1745A>C
NR_134502.1:n.1284A>C
XM_011520304.2:c.*225A>C	XP_011518606.1:n.*225A>C
XR_001747940.2:n.1917A>C
XR_002957158.1:n.2099A>C
NM_000543.5:c.1732A>C MANE Select	NP_000534.3:p.Lys578Gln
NM_001007593.3:c.1729A>C	NP_001007594.2:p.Lys577Gln
NM_001318087.2:c.*225A>C	NP_001305016.1:n.*225A>C
NM_001318088.2:c.811A>C	NP_001305017.1:p.Lys271Gln
NM_001365135.2:c.1600A>C	NP_001352064.1:p.Lys534Gln
NR_027400.3:n.1685A>C
NR_134502.2:n.1224A>C