Canonical Allele Identifier: CA379375620

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2948884
• ClinVar RCV Id: RCV003801610
• MyVariant Identifiers: chr11:g.6415272G>T (hg19) ; chr11:g.6394042G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394042G>T , CM000673.2:g.6394042G>T	GRCh38
NC_000011.9:g.6415272G>T , CM000673.1:g.6415272G>T	GRCh37
NC_000011.8:g.6371848G>T	NCBI36
NG_011780.1:g.8618G>T
NG_029615.1:g.30373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486+1G>T MANE Select	ENSP00000340409.4:n.1486+1G>T
ENST00000342245.8:c.1486+1G>T	ENSP00000340409.4:n.1486+1G>T
ENST00000526280.1:c.543+1G>T
ENST00000527275.5:c.1483+1G>T	ENSP00000435350.1:n.1483+1G>T
ENST00000531303.5:c.*317+1G>T	ENSP00000432625.1:n.*317+1G>T
ENST00000531336.1:n.319G>T
ENST00000532367.1:n.323G>T
ENST00000533123.5:c.*213+1G>T	ENSP00000435950.1:n.*213+1G>T
ENST00000534405.5:c.*317+1G>T	ENSP00000434353.1:n.*317+1G>T
NM_000543.4:c.1486+1G>T	NP_000534.3:n.1486+1G>T
NM_001007593.2:c.1483+1G>T	NP_001007594.2:n.1483+1G>T
XM_005253075.3:c.1486+1G>T	XP_005253132.1:n.1486+1G>T
XM_011520303.1:c.1354+1G>T	XP_011518605.1:n.1354+1G>T
XM_011520304.1:c.1354+1G>T	XP_011518606.1:n.1354+1G>T
NM_001318087.1:c.1486+1G>T	NP_001305016.1:n.1486+1G>T
NM_001318088.1:c.565+1G>T	NP_001305017.1:n.565+1G>T
NM_001365135.1:c.1354+1G>T	NP_001352064.1:n.1354+1G>T
NR_027400.2:n.1499+1G>T
NR_134502.1:n.1018+1G>T
XM_011520304.2:c.1354+1G>T	XP_011518606.1:n.1354+1G>T
XR_001747940.2:n.1651+1G>T
XR_002957158.1:n.1853+1G>T
NM_000543.5:c.1486+1G>T MANE Select	NP_000534.3:n.1486+1G>T
NM_001007593.3:c.1483+1G>T	NP_001007594.2:n.1483+1G>T
NM_001318087.2:c.1486+1G>T	NP_001305016.1:n.1486+1G>T
NM_001318088.2:c.565+1G>T	NP_001305017.1:n.565+1G>T
NM_001365135.2:c.1354+1G>T	NP_001352064.1:n.1354+1G>T
NR_027400.3:n.1439+1G>T
NR_134502.2:n.958+1G>T