Canonical Allele Identifier: CA379371452

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2020354
• ClinVar RCV Id: RCV002857215
• MyVariant Identifiers: chr11:g.6413268C>T (hg19) ; chr11:g.6392038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392038C>T , CM000673.2:g.6392038C>T	GRCh38
NC_000011.9:g.6413268C>T , CM000673.1:g.6413268C>T	GRCh37
NC_000011.8:g.6369844C>T	NCBI36
NG_011780.1:g.6614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.973C>T MANE Select	ENSP00000340409.4:p.Pro325Ser
ENST00000342245.8:c.973C>T	ENSP00000340409.4:p.Pro325Ser
ENST00000526280.1:c.162C>T
ENST00000527275.5:c.970C>T	ENSP00000435350.1:p.Pro324Ser
ENST00000530395.1:c.154C>T	ENSP00000431479.1:p.Pro52Ser
ENST00000531303.5:c.438+535C>T	ENSP00000432625.1:n.438+535C>T
ENST00000533123.5:c.973C>T	ENSP00000435950.1:p.Pro325Ser
ENST00000533196.1:n.407C>T
ENST00000534405.5:c.973C>T	ENSP00000434353.1:p.Pro325Ser
NM_000543.4:c.973C>T	NP_000534.3:p.Pro325Ser
NM_001007593.2:c.970C>T	NP_001007594.2:p.Pro324Ser
XM_005253075.3:c.973C>T	XP_005253132.1:p.Pro325Ser
XM_011520303.1:c.973C>T	XP_011518605.1:p.Pro325Ser
XM_011520304.1:c.973C>T	XP_011518606.1:p.Pro325Ser
XR_930886.1:n.1271C>T
NM_001318087.1:c.973C>T	NP_001305016.1:p.Pro325Ser
NM_001318088.1:c.12C>T	NP_001305017.1:p.His4=
NM_001365135.1:c.973C>T	NP_001352064.1:p.Pro325Ser
NR_027400.2:n.1158C>T
NR_134502.1:n.623+535C>T
XM_011520304.2:c.973C>T	XP_011518606.1:p.Pro325Ser
XR_001747940.2:n.1098C>T
XR_002957158.1:n.1098C>T
NM_000543.5:c.973C>T MANE Select	NP_000534.3:p.Pro325Ser
NM_001007593.3:c.970C>T	NP_001007594.2:p.Pro324Ser
NM_001318087.2:c.973C>T	NP_001305016.1:p.Pro325Ser
NM_001318088.2:c.12C>T	NP_001305017.1:p.His4=
NM_001365135.2:c.973C>T	NP_001352064.1:p.Pro325Ser
NR_027400.3:n.1098C>T
NR_134502.2:n.563+535C>T