Canonical Allele Identifier: CA379376118

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415484G>T (hg19) ; chr11:g.6394254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394254G>T , CM000673.2:g.6394254G>T	GRCh38
NC_000011.9:g.6415484G>T , CM000673.1:g.6415484G>T	GRCh37
NC_000011.8:g.6372060G>T	NCBI36
NG_011780.1:g.8830G>T
NG_029615.1:g.30161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1543G>T MANE Select	ENSP00000340409.4:p.Asp515Tyr
ENST00000342245.8:c.1543G>T	ENSP00000340409.4:p.Asp515Tyr
ENST00000526280.1:c.600G>T
ENST00000527275.5:c.1540G>T	ENSP00000435350.1:p.Asp514Tyr
ENST00000531303.5:c.*394G>T	ENSP00000432625.1:n.*394G>T
ENST00000531336.1:n.531G>T
ENST00000533123.5:c.*270G>T	ENSP00000435950.1:n.*270G>T
ENST00000534405.5:c.*374G>T	ENSP00000434353.1:n.*374G>T
NM_000543.4:c.1543G>T	NP_000534.3:p.Asp515Tyr
NM_001007593.2:c.1540G>T	NP_001007594.2:p.Asp514Tyr
XM_005253075.3:c.*36G>T	XP_005253132.1:n.*36G>T
XM_011520303.1:c.1411G>T	XP_011518605.1:p.Asp471Tyr
XM_011520304.1:c.*36G>T	XP_011518606.1:n.*36G>T
NM_001318087.1:c.*36G>T	NP_001305016.1:n.*36G>T
NM_001318088.1:c.622G>T	NP_001305017.1:p.Asp208Tyr
NM_001365135.1:c.1411G>T	NP_001352064.1:p.Asp471Tyr
NR_027400.2:n.1556G>T
NR_134502.1:n.1095G>T
XM_011520304.2:c.*36G>T	XP_011518606.1:n.*36G>T
XR_001747940.2:n.1728G>T
XR_002957158.1:n.1910G>T
NM_000543.5:c.1543G>T MANE Select	NP_000534.3:p.Asp515Tyr
NM_001007593.3:c.1540G>T	NP_001007594.2:p.Asp514Tyr
NM_001318087.2:c.*36G>T	NP_001305016.1:n.*36G>T
NM_001318088.2:c.622G>T	NP_001305017.1:p.Asp208Tyr
NM_001365135.2:c.1411G>T	NP_001352064.1:p.Asp471Tyr
NR_027400.3:n.1496G>T
NR_134502.2:n.1035G>T