Canonical Allele Identifier: CA472736608

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392133-T-G
• MyVariant Identifiers: chr11:g.6413363T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392133T>G , CM000673.2:g.6392133T>G	GRCh38
NC_000011.9:g.6413363T>G , CM000673.1:g.6413363T>G	GRCh37
NC_000011.8:g.6369939T>G	NCBI36
NG_011780.1:g.6709T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1068T>G MANE Select	ENSP00000340409.4:p.Pro356=
ENST00000342245.8:c.1068T>G	ENSP00000340409.4:p.Pro356=
ENST00000526280.1:c.257T>G
ENST00000527275.5:c.1065T>G	ENSP00000435350.1:p.Pro355=
ENST00000531303.5:c.438+630T>G	ENSP00000432625.1:n.438+630T>G
ENST00000533123.5:c.1068T>G	ENSP00000435950.1:p.Pro356=
ENST00000534405.5:c.1068T>G	ENSP00000434353.1:p.Pro356=
NM_000543.4:c.1068T>G	NP_000534.3:p.Pro356=
NM_001007593.2:c.1065T>G	NP_001007594.2:p.Pro355=
XM_005253075.3:c.1068T>G	XP_005253132.1:p.Pro356=
XM_011520303.1:c.1068T>G	XP_011518605.1:p.Pro356=
XM_011520304.1:c.1068T>G	XP_011518606.1:p.Pro356=
XR_930886.1:n.1366T>G
NM_001318087.1:c.1068T>G	NP_001305016.1:p.Pro356=
NM_001318088.1:c.107T>G	NP_001305017.1:p.Leu36Arg
NM_001365135.1:c.1068T>G	NP_001352064.1:p.Pro356=
NR_027400.2:n.1253T>G
NR_134502.1:n.623+630T>G
XM_011520304.2:c.1068T>G	XP_011518606.1:p.Pro356=
XR_001747940.2:n.1193T>G
XR_002957158.1:n.1193T>G
NM_000543.5:c.1068T>G MANE Select	NP_000534.3:p.Pro356=
NM_001007593.3:c.1065T>G	NP_001007594.2:p.Pro355=
NM_001318087.2:c.1068T>G	NP_001305016.1:p.Pro356=
NM_001318088.2:c.107T>G	NP_001305017.1:p.Leu36Arg
NM_001365135.2:c.1068T>G	NP_001352064.1:p.Pro356=
NR_027400.3:n.1193T>G
NR_134502.2:n.563+630T>G