Canonical Allele Identifier: CA379376943

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394444-A-C
• MyVariant Identifiers: chr11:g.6415674A>C (hg19) ; chr11:g.6394444A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394444A>C , CM000673.2:g.6394444A>C	GRCh38
NC_000011.9:g.6415674A>C , CM000673.1:g.6415674A>C	GRCh37
NC_000011.8:g.6372250A>C	NCBI36
NG_011780.1:g.9020A>C
NG_029615.1:g.29971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1733A>C MANE Select	ENSP00000340409.4:p.Lys578Thr
ENST00000342245.8:c.1733A>C	ENSP00000340409.4:p.Lys578Thr
ENST00000526280.1:c.790A>C
ENST00000527275.5:c.1730A>C	ENSP00000435350.1:p.Lys577Thr
ENST00000531303.5:c.*584A>C	ENSP00000432625.1:n.*584A>C
ENST00000533123.5:c.*460A>C	ENSP00000435950.1:n.*460A>C
ENST00000534405.5:c.*564A>C	ENSP00000434353.1:n.*564A>C
NM_000543.4:c.1733A>C	NP_000534.3:p.Lys578Thr
NM_001007593.2:c.1730A>C	NP_001007594.2:p.Lys577Thr
XM_005253075.3:c.*226A>C	XP_005253132.1:n.*226A>C
XM_011520303.1:c.1601A>C	XP_011518605.1:p.Lys534Thr
XM_011520304.1:c.*226A>C	XP_011518606.1:n.*226A>C
NM_001318087.1:c.*226A>C	NP_001305016.1:n.*226A>C
NM_001318088.1:c.812A>C	NP_001305017.1:p.Lys271Thr
NM_001365135.1:c.1601A>C	NP_001352064.1:p.Lys534Thr
NR_027400.2:n.1746A>C
NR_134502.1:n.1285A>C
XM_011520304.2:c.*226A>C	XP_011518606.1:n.*226A>C
XR_001747940.2:n.1918A>C
XR_002957158.1:n.2100A>C
NM_000543.5:c.1733A>C MANE Select	NP_000534.3:p.Lys578Thr
NM_001007593.3:c.1730A>C	NP_001007594.2:p.Lys577Thr
NM_001318087.2:c.*226A>C	NP_001305016.1:n.*226A>C
NM_001318088.2:c.812A>C	NP_001305017.1:p.Lys271Thr
NM_001365135.2:c.1601A>C	NP_001352064.1:p.Lys534Thr
NR_027400.3:n.1686A>C
NR_134502.2:n.1225A>C