Canonical Allele Identifier: CA379375732

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394200T>C , CM000673.2:g.6394200T>C	GRCh38
NC_000011.9:g.6415430T>C , CM000673.1:g.6415430T>C	GRCh37
NC_000011.8:g.6372006T>C	NCBI36
NG_011780.1:g.8776T>C
NG_029615.1:g.30215A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1489T>C MANE Select	NP_000534.3:p.Tyr497His
ENST00000342245.9:c.1489T>C MANE Select	ENSP00000340409.4:p.Tyr497His
NM_000543.4:c.1489T>C	NP_000534.3:p.Tyr497His
NM_001007593.2:c.1486T>C	NP_001007594.2:p.Tyr496His
NM_001007593.3:c.1486T>C	NP_001007594.2:p.Tyr496His
NM_001318087.1:c.1509T>C	NP_001305016.1:p.Val503=
NM_001318087.2:c.1509T>C	NP_001305016.1:p.Val503=
NM_001318088.1:c.568T>C	NP_001305017.1:p.Tyr190His
NM_001318088.2:c.568T>C	NP_001305017.1:p.Tyr190His
NM_001365135.1:c.1357T>C	NP_001352064.1:p.Tyr453His
NM_001365135.2:c.1357T>C	NP_001352064.1:p.Tyr453His
NR_027400.2:n.1502T>C
NR_027400.3:n.1442T>C
NR_134502.1:n.1041T>C
NR_134502.2:n.981T>C
ENST00000342245.8:c.1489T>C	ENSP00000340409.4:p.Tyr497His
ENST00000526280.1:c.546T>C
ENST00000527275.5:c.1486T>C	ENSP00000435350.1:p.Tyr496His
ENST00000531303.5:c.*340T>C	ENSP00000432625.1:n.*340T>C
ENST00000531336.1:n.477T>C
ENST00000533123.5:c.*216T>C	ENSP00000435950.1:n.*216T>C
ENST00000534405.5:c.*320T>C	ENSP00000434353.1:n.*320T>C
XM_005253075.3:c.1509T>C	XP_005253132.1:p.Val503=
XM_011520303.1:c.1357T>C	XP_011518605.1:p.Tyr453His
XM_011520304.1:c.1377T>C	XP_011518606.1:p.Val459=
XM_011520304.2:c.1377T>C	XP_011518606.1:p.Val459=
XR_001747940.2:n.1674T>C
XR_002957158.1:n.1856T>C