Canonical Allele Identifier: CA345233376

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401137T>C (hg19) ; chr1:g.231265391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265391T>C , CM000663.2:g.231265391T>C	GRCh38
NC_000001.10:g.231401137T>C , CM000663.1:g.231401137T>C	GRCh37
NC_000001.9:g.229467760T>C	NCBI36
NG_008240.1:g.29219T>C
NG_008240.2:g.29219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.667T>C MANE Select	ENSP00000355607.4:p.Phe223Leu
ENST00000644483.1:c.*353T>C	ENSP00000496537.1:n.*353T>C
ENST00000366647.8:c.667T>C	ENSP00000355607.4:p.Phe223Leu
ENST00000416000.1:c.637T>C	ENSP00000411640.1:p.Phe213Leu
ENST00000436239.5:c.484T>C	ENSP00000402811.1:p.Phe162Leu
NM_001316350.1:c.484T>C	NP_001303279.1:p.Phe162Leu
NM_014236.3:c.667T>C	NP_055051.1:p.Phe223Leu
XM_005273313.3:c.664T>C	XP_005273370.1:p.Phe222Leu
XM_011544303.1:c.340T>C	XP_011542605.1:p.Phe114Leu
XM_011544304.1:c.340T>C	XP_011542606.1:p.Phe114Leu
XM_005273313.4:c.664T>C	XP_005273370.1:p.Phe222Leu
XM_011544303.3:c.340T>C	XP_011542605.1:p.Phe114Leu
XM_011544304.2:c.340T>C	XP_011542606.1:p.Phe114Leu
NM_014236.4:c.667T>C MANE Select	NP_055051.1:p.Phe223Leu
NM_001316350.2:c.484T>C	NP_001303279.1:p.Phe162Leu