Canonical Allele Identifier: CA345233316

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401122C>A (hg19) ; chr1:g.231265376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265376C>A , CM000663.2:g.231265376C>A	GRCh38
NC_000001.10:g.231401122C>A , CM000663.1:g.231401122C>A	GRCh37
NC_000001.9:g.229467745C>A	NCBI36
NG_008240.1:g.29204C>A
NG_008240.2:g.29204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.652C>A MANE Select	ENSP00000355607.4:p.Leu218Ile
ENST00000644483.1:c.*338C>A	ENSP00000496537.1:n.*338C>A
ENST00000366647.8:c.652C>A	ENSP00000355607.4:p.Leu218Ile
ENST00000416000.1:c.622C>A	ENSP00000411640.1:p.Leu208Ile
ENST00000436239.5:c.469C>A	ENSP00000402811.1:p.Leu157Ile
NM_001316350.1:c.469C>A	NP_001303279.1:p.Leu157Ile
NM_014236.3:c.652C>A	NP_055051.1:p.Leu218Ile
XM_005273313.3:c.649C>A	XP_005273370.1:p.Leu217Ile
XM_011544303.1:c.325C>A	XP_011542605.1:p.Leu109Ile
XM_011544304.1:c.325C>A	XP_011542606.1:p.Leu109Ile
XM_005273313.4:c.649C>A	XP_005273370.1:p.Leu217Ile
XM_011544303.3:c.325C>A	XP_011542605.1:p.Leu109Ile
XM_011544304.2:c.325C>A	XP_011542606.1:p.Leu109Ile
NM_014236.4:c.652C>A MANE Select	NP_055051.1:p.Leu218Ile
NM_001316350.2:c.469C>A	NP_001303279.1:p.Leu157Ile