Canonical Allele Identifier: CA472909524

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391608-T-A
• MyVariant Identifiers: chr11:g.6412838T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391608T>A , CM000673.2:g.6391608T>A	GRCh38
NC_000011.9:g.6412838T>A , CM000673.1:g.6412838T>A	GRCh37
NC_000011.8:g.6369414T>A	NCBI36
NG_011780.1:g.6184T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.543T>A MANE Select	ENSP00000340409.4:p.Pro181=
ENST00000342245.8:c.543T>A	ENSP00000340409.4:p.Pro181=
ENST00000527275.5:c.540T>A	ENSP00000435350.1:p.Pro180=
ENST00000530395.1:c.-95-182T>A	ENSP00000431479.1:n.-95-182T>A
ENST00000531303.5:c.438+105T>A	ENSP00000432625.1:n.438+105T>A
ENST00000533123.5:c.543T>A	ENSP00000435950.1:p.Pro181=
ENST00000533196.1:n.375-398T>A
ENST00000534405.5:c.543T>A	ENSP00000434353.1:p.Pro181=
NM_000543.4:c.543T>A	NP_000534.3:p.Pro181=
NM_001007593.2:c.540T>A	NP_001007594.2:p.Pro180=
XM_005253075.3:c.543T>A	XP_005253132.1:p.Pro181=
XM_011520303.1:c.543T>A	XP_011518605.1:p.Pro181=
XM_011520304.1:c.543T>A	XP_011518606.1:p.Pro181=
XR_930886.1:n.841T>A
NM_001318087.1:c.543T>A	NP_001305016.1:p.Pro181=
NM_001318088.1:c.-419T>A	NP_001305017.1:n.-419T>A
NM_001365135.1:c.543T>A	NP_001352064.1:p.Pro181=
NR_027400.2:n.728T>A
NR_134502.1:n.623+105T>A
XM_011520304.2:c.543T>A	XP_011518606.1:p.Pro181=
XR_001747940.2:n.668T>A
XR_002957158.1:n.668T>A
NM_000543.5:c.543T>A MANE Select	NP_000534.3:p.Pro181=
NM_001007593.3:c.540T>A	NP_001007594.2:p.Pro180=
NM_001318087.2:c.543T>A	NP_001305016.1:p.Pro181=
NM_001318088.2:c.-419T>A	NP_001305017.1:n.-419T>A
NM_001365135.2:c.543T>A	NP_001352064.1:p.Pro181=
NR_027400.3:n.668T>A
NR_134502.2:n.563+105T>A