Canonical Allele Identifier: CA345233003

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401045T>C (hg19) ; chr1:g.231265299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265299T>C , CM000663.2:g.231265299T>C	GRCh38
NC_000001.10:g.231401045T>C , CM000663.1:g.231401045T>C	GRCh37
NC_000001.9:g.229467668T>C	NCBI36
NG_008240.1:g.29127T>C
NG_008240.2:g.29127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.575T>C MANE Select	ENSP00000355607.4:p.Leu192Pro
ENST00000644483.1:c.*261T>C	ENSP00000496537.1:n.*261T>C
ENST00000366647.8:c.575T>C	ENSP00000355607.4:p.Leu192Pro
ENST00000416000.1:c.545T>C	ENSP00000411640.1:p.Leu182Pro
ENST00000436239.5:c.392T>C	ENSP00000402811.1:p.Leu131Pro
NM_001316350.1:c.392T>C	NP_001303279.1:p.Leu131Pro
NM_014236.3:c.575T>C	NP_055051.1:p.Leu192Pro
XM_005273313.3:c.572T>C	XP_005273370.1:p.Leu191Pro
XM_011544303.1:c.248T>C	XP_011542605.1:p.Leu83Pro
XM_011544304.1:c.248T>C	XP_011542606.1:p.Leu83Pro
XM_005273313.4:c.572T>C	XP_005273370.1:p.Leu191Pro
XM_011544303.3:c.248T>C	XP_011542605.1:p.Leu83Pro
XM_011544304.2:c.248T>C	XP_011542606.1:p.Leu83Pro
NM_014236.4:c.575T>C MANE Select	NP_055051.1:p.Leu192Pro
NM_001316350.2:c.392T>C	NP_001303279.1:p.Leu131Pro