Canonical Allele Identifier: CA472736563

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413288C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392058C>A , CM000673.2:g.6392058C>A	GRCh38
NC_000011.9:g.6413288C>A , CM000673.1:g.6413288C>A	GRCh37
NC_000011.8:g.6369864C>A	NCBI36
NG_011780.1:g.6634C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.993C>A MANE Select	ENSP00000340409.4:p.Pro331=
ENST00000342245.8:c.993C>A	ENSP00000340409.4:p.Pro331=
ENST00000526280.1:c.182C>A
ENST00000527275.5:c.990C>A	ENSP00000435350.1:p.Pro330=
ENST00000531303.5:c.438+555C>A	ENSP00000432625.1:n.438+555C>A
ENST00000533123.5:c.993C>A	ENSP00000435950.1:p.Pro331=
ENST00000534405.5:c.993C>A	ENSP00000434353.1:p.Pro331=
NM_000543.4:c.993C>A	NP_000534.3:p.Pro331=
NM_001007593.2:c.990C>A	NP_001007594.2:p.Pro330=
XM_005253075.3:c.993C>A	XP_005253132.1:p.Pro331=
XM_011520303.1:c.993C>A	XP_011518605.1:p.Pro331=
XM_011520304.1:c.993C>A	XP_011518606.1:p.Pro331=
XR_930886.1:n.1291C>A
NM_001318087.1:c.993C>A	NP_001305016.1:p.Pro331=
NM_001318088.1:c.32C>A	NP_001305017.1:p.Pro11His
NM_001365135.1:c.993C>A	NP_001352064.1:p.Pro331=
NR_027400.2:n.1178C>A
NR_134502.1:n.623+555C>A
XM_011520304.2:c.993C>A	XP_011518606.1:p.Pro331=
XR_001747940.2:n.1118C>A
XR_002957158.1:n.1118C>A
NM_000543.5:c.993C>A MANE Select	NP_000534.3:p.Pro331=
NM_001007593.3:c.990C>A	NP_001007594.2:p.Pro330=
NM_001318087.2:c.993C>A	NP_001305016.1:p.Pro331=
NM_001318088.2:c.32C>A	NP_001305017.1:p.Pro11His
NM_001365135.2:c.993C>A	NP_001352064.1:p.Pro331=
NR_027400.3:n.1118C>A
NR_134502.2:n.563+555C>A