Canonical Allele Identifier: CA379376141

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415488A>C (hg19) ; chr11:g.6394258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394258A>C , CM000673.2:g.6394258A>C	GRCh38
NC_000011.9:g.6415488A>C , CM000673.1:g.6415488A>C	GRCh37
NC_000011.8:g.6372064A>C	NCBI36
NG_011780.1:g.8834A>C
NG_029615.1:g.30157T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1547A>C MANE Select	ENSP00000340409.4:p.His516Pro
ENST00000342245.8:c.1547A>C	ENSP00000340409.4:p.His516Pro
ENST00000526280.1:c.604A>C
ENST00000527275.5:c.1544A>C	ENSP00000435350.1:p.His515Pro
ENST00000531303.5:c.*398A>C	ENSP00000432625.1:n.*398A>C
ENST00000531336.1:n.535A>C
ENST00000533123.5:c.*274A>C	ENSP00000435950.1:n.*274A>C
ENST00000534405.5:c.*378A>C	ENSP00000434353.1:n.*378A>C
NM_000543.4:c.1547A>C	NP_000534.3:p.His516Pro
NM_001007593.2:c.1544A>C	NP_001007594.2:p.His515Pro
XM_005253075.3:c.*40A>C	XP_005253132.1:n.*40A>C
XM_011520303.1:c.1415A>C	XP_011518605.1:p.His472Pro
XM_011520304.1:c.*40A>C	XP_011518606.1:n.*40A>C
NM_001318087.1:c.*40A>C	NP_001305016.1:n.*40A>C
NM_001318088.1:c.626A>C	NP_001305017.1:p.His209Pro
NM_001365135.1:c.1415A>C	NP_001352064.1:p.His472Pro
NR_027400.2:n.1560A>C
NR_134502.1:n.1099A>C
XM_011520304.2:c.*40A>C	XP_011518606.1:n.*40A>C
XR_001747940.2:n.1732A>C
XR_002957158.1:n.1914A>C
NM_000543.5:c.1547A>C MANE Select	NP_000534.3:p.His516Pro
NM_001007593.3:c.1544A>C	NP_001007594.2:p.His515Pro
NM_001318087.2:c.*40A>C	NP_001305016.1:n.*40A>C
NM_001318088.2:c.626A>C	NP_001305017.1:p.His209Pro
NM_001365135.2:c.1415A>C	NP_001352064.1:p.His472Pro
NR_027400.3:n.1500A>C
NR_134502.2:n.1039A>C