Canonical Allele Identifier: CA379376474

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415544T>G (hg19) ; chr11:g.6394314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394314T>G , CM000673.2:g.6394314T>G	GRCh38
NC_000011.9:g.6415544T>G , CM000673.1:g.6415544T>G	GRCh37
NC_000011.8:g.6372120T>G	NCBI36
NG_011780.1:g.8890T>G
NG_029615.1:g.30101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1603T>G MANE Select	ENSP00000340409.4:p.Trp535Gly
ENST00000342245.8:c.1603T>G	ENSP00000340409.4:p.Trp535Gly
ENST00000526280.1:c.660T>G
ENST00000527275.5:c.1600T>G	ENSP00000435350.1:p.Trp534Gly
ENST00000531303.5:c.*454T>G	ENSP00000432625.1:n.*454T>G
ENST00000531336.1:n.591T>G
ENST00000533123.5:c.*330T>G	ENSP00000435950.1:n.*330T>G
ENST00000534405.5:c.*434T>G	ENSP00000434353.1:n.*434T>G
NM_000543.4:c.1603T>G	NP_000534.3:p.Trp535Gly
NM_001007593.2:c.1600T>G	NP_001007594.2:p.Trp534Gly
XM_005253075.3:c.*96T>G	XP_005253132.1:n.*96T>G
XM_011520303.1:c.1471T>G	XP_011518605.1:p.Trp491Gly
XM_011520304.1:c.*96T>G	XP_011518606.1:n.*96T>G
NM_001318087.1:c.*96T>G	NP_001305016.1:n.*96T>G
NM_001318088.1:c.682T>G	NP_001305017.1:p.Trp228Gly
NM_001365135.1:c.1471T>G	NP_001352064.1:p.Trp491Gly
NR_027400.2:n.1616T>G
NR_134502.1:n.1155T>G
XM_011520304.2:c.*96T>G	XP_011518606.1:n.*96T>G
XR_001747940.2:n.1788T>G
XR_002957158.1:n.1970T>G
NM_000543.5:c.1603T>G MANE Select	NP_000534.3:p.Trp535Gly
NM_001007593.3:c.1600T>G	NP_001007594.2:p.Trp534Gly
NM_001318087.2:c.*96T>G	NP_001305016.1:n.*96T>G
NM_001318088.2:c.682T>G	NP_001305017.1:p.Trp228Gly
NM_001365135.2:c.1471T>G	NP_001352064.1:p.Trp491Gly
NR_027400.3:n.1556T>G
NR_134502.2:n.1095T>G