Canonical Allele Identifier: CA379370894

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413028T>G (hg19) ; chr11:g.6391798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391798T>G , CM000673.2:g.6391798T>G	GRCh38
NC_000011.9:g.6413028T>G , CM000673.1:g.6413028T>G	GRCh37
NC_000011.8:g.6369604T>G	NCBI36
NG_011780.1:g.6374T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.733T>G MANE Select	ENSP00000340409.4:p.Tyr245Asp
ENST00000342245.8:c.733T>G	ENSP00000340409.4:p.Tyr245Asp
ENST00000527275.5:c.730T>G	ENSP00000435350.1:p.Tyr244Asp
ENST00000530395.1:c.-87T>G	ENSP00000431479.1:n.-87T>G
ENST00000531303.5:c.438+295T>G	ENSP00000432625.1:n.438+295T>G
ENST00000533123.5:c.733T>G	ENSP00000435950.1:p.Tyr245Asp
ENST00000533196.1:n.375-208T>G
ENST00000534405.5:c.733T>G	ENSP00000434353.1:p.Tyr245Asp
NM_000543.4:c.733T>G	NP_000534.3:p.Tyr245Asp
NM_001007593.2:c.730T>G	NP_001007594.2:p.Tyr244Asp
XM_005253075.3:c.733T>G	XP_005253132.1:p.Tyr245Asp
XM_011520303.1:c.733T>G	XP_011518605.1:p.Tyr245Asp
XM_011520304.1:c.733T>G	XP_011518606.1:p.Tyr245Asp
XR_930886.1:n.1031T>G
NM_001318087.1:c.733T>G	NP_001305016.1:p.Tyr245Asp
NM_001318088.1:c.-229T>G	NP_001305017.1:n.-229T>G
NM_001365135.1:c.733T>G	NP_001352064.1:p.Tyr245Asp
NR_027400.2:n.918T>G
NR_134502.1:n.623+295T>G
XM_011520304.2:c.733T>G	XP_011518606.1:p.Tyr245Asp
XR_001747940.2:n.858T>G
XR_002957158.1:n.858T>G
NM_000543.5:c.733T>G MANE Select	NP_000534.3:p.Tyr245Asp
NM_001007593.3:c.730T>G	NP_001007594.2:p.Tyr244Asp
NM_001318087.2:c.733T>G	NP_001305016.1:p.Tyr245Asp
NM_001318088.2:c.-229T>G	NP_001305017.1:n.-229T>G
NM_001365135.2:c.733T>G	NP_001352064.1:p.Tyr245Asp
NR_027400.3:n.858T>G
NR_134502.2:n.563+295T>G