Canonical Allele Identifier: CA379371277

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2953725
• ClinVar RCV Id: RCV003812948
• MyVariant Identifiers: chr11:g.6413214A>T (hg19) ; chr11:g.6391984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391984A>T , CM000673.2:g.6391984A>T	GRCh38
NC_000011.9:g.6413214A>T , CM000673.1:g.6413214A>T	GRCh37
NC_000011.8:g.6369790A>T	NCBI36
NG_011780.1:g.6560A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.919A>T MANE Select	ENSP00000340409.4:p.Lys307Ter
ENST00000342245.8:c.919A>T	ENSP00000340409.4:p.Lys307Ter
ENST00000526280.1:c.108A>T
ENST00000527275.5:c.916A>T	ENSP00000435350.1:p.Lys306Ter
ENST00000530395.1:c.100A>T	ENSP00000431479.1:p.Lys34Ter
ENST00000531303.5:c.438+481A>T	ENSP00000432625.1:n.438+481A>T
ENST00000533123.5:c.919A>T	ENSP00000435950.1:p.Lys307Ter
ENST00000533196.1:n.375-22A>T
ENST00000534405.5:c.919A>T	ENSP00000434353.1:p.Lys307Ter
NM_000543.4:c.919A>T	NP_000534.3:p.Lys307Ter
NM_001007593.2:c.916A>T	NP_001007594.2:p.Lys306Ter
XM_005253075.3:c.919A>T	XP_005253132.1:p.Lys307Ter
XM_011520303.1:c.919A>T	XP_011518605.1:p.Lys307Ter
XM_011520304.1:c.919A>T	XP_011518606.1:p.Lys307Ter
XR_930886.1:n.1217A>T
NM_001318087.1:c.919A>T	NP_001305016.1:p.Lys307Ter
NM_001318088.1:c.-43A>T	NP_001305017.1:n.-43A>T
NM_001365135.1:c.919A>T	NP_001352064.1:p.Lys307Ter
NR_027400.2:n.1104A>T
NR_134502.1:n.623+481A>T
XM_011520304.2:c.919A>T	XP_011518606.1:p.Lys307Ter
XR_001747940.2:n.1044A>T
XR_002957158.1:n.1044A>T
NM_000543.5:c.919A>T MANE Select	NP_000534.3:p.Lys307Ter
NM_001007593.3:c.916A>T	NP_001007594.2:p.Lys306Ter
NM_001318087.2:c.919A>T	NP_001305016.1:p.Lys307Ter
NM_001318088.2:c.-43A>T	NP_001305017.1:n.-43A>T
NM_001365135.2:c.919A>T	NP_001352064.1:p.Lys307Ter
NR_027400.3:n.1044A>T
NR_134502.2:n.563+481A>T