Canonical Allele Identifier: CA2574738716

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394054G>T , CM000673.2:g.6394054G>T	GRCh38
NC_000011.9:g.6415284G>T , CM000673.1:g.6415284G>T	GRCh37
NC_000011.8:g.6371860G>T	NCBI36
NG_011780.1:g.8630G>T
NG_029615.1:g.30361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486+13G>T MANE Select	ENSP00000340409.4:n.1486+13G>T
ENST00000342245.8:c.1486+13G>T	ENSP00000340409.4:n.1486+13G>T
ENST00000526280.1:c.543+13G>T
ENST00000527275.5:c.1483+13G>T	ENSP00000435350.1:n.1483+13G>T
ENST00000531303.5:c.*317+13G>T	ENSP00000432625.1:n.*317+13G>T
ENST00000531336.1:n.331G>T
ENST00000532367.1:n.335G>T
ENST00000533123.5:c.*213+13G>T	ENSP00000435950.1:n.*213+13G>T
ENST00000534405.5:c.*317+13G>T	ENSP00000434353.1:n.*317+13G>T
NM_000543.4:c.1486+13G>T	NP_000534.3:n.1486+13G>T
NM_001007593.2:c.1483+13G>T	NP_001007594.2:n.1483+13G>T
XM_005253075.3:c.1486+13G>T	XP_005253132.1:n.1486+13G>T
XM_011520303.1:c.1354+13G>T	XP_011518605.1:n.1354+13G>T
XM_011520304.1:c.1354+13G>T	XP_011518606.1:n.1354+13G>T
NM_001318087.1:c.1486+13G>T	NP_001305016.1:n.1486+13G>T
NM_001318088.1:c.565+13G>T	NP_001305017.1:n.565+13G>T
NM_001365135.1:c.1354+13G>T	NP_001352064.1:n.1354+13G>T
NR_027400.2:n.1499+13G>T
NR_134502.1:n.1018+13G>T
XM_011520304.2:c.1354+13G>T	XP_011518606.1:n.1354+13G>T
XR_001747940.2:n.1651+13G>T
XR_002957158.1:n.1853+13G>T
NM_000543.5:c.1486+13G>T MANE Select	NP_000534.3:n.1486+13G>T
NM_001007593.3:c.1483+13G>T	NP_001007594.2:n.1483+13G>T
NM_001318087.2:c.1486+13G>T	NP_001305016.1:n.1486+13G>T
NM_001318088.2:c.565+13G>T	NP_001305017.1:n.565+13G>T
NM_001365135.2:c.1354+13G>T	NP_001352064.1:n.1354+13G>T
NR_027400.3:n.1439+13G>T
NR_134502.2:n.958+13G>T