Canonical Allele Identifier: CA345233352

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 1957679
• ClinVar RCV Id: RCV002690808
• COSMIC: COSM3977191
• MyVariant Identifiers: chr1:g.231401130G>T (hg19) ; chr1:g.231265384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265384G>T , CM000663.2:g.231265384G>T	GRCh38
NC_000001.10:g.231401130G>T , CM000663.1:g.231401130G>T	GRCh37
NC_000001.9:g.229467753G>T	NCBI36
NG_008240.1:g.29212G>T
NG_008240.2:g.29212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.660G>T MANE Select	ENSP00000355607.4:p.Trp220Cys
ENST00000644483.1:c.*346G>T	ENSP00000496537.1:n.*346G>T
ENST00000366647.8:c.660G>T	ENSP00000355607.4:p.Trp220Cys
ENST00000416000.1:c.630G>T	ENSP00000411640.1:p.Trp210Cys
ENST00000436239.5:c.477G>T	ENSP00000402811.1:p.Trp159Cys
NM_001316350.1:c.477G>T	NP_001303279.1:p.Trp159Cys
NM_014236.3:c.660G>T	NP_055051.1:p.Trp220Cys
XM_005273313.3:c.657G>T	XP_005273370.1:p.Trp219Cys
XM_011544303.1:c.333G>T	XP_011542605.1:p.Trp111Cys
XM_011544304.1:c.333G>T	XP_011542606.1:p.Trp111Cys
XM_005273313.4:c.657G>T	XP_005273370.1:p.Trp219Cys
XM_011544303.3:c.333G>T	XP_011542605.1:p.Trp111Cys
XM_011544304.2:c.333G>T	XP_011542606.1:p.Trp111Cys
NM_014236.4:c.660G>T MANE Select	NP_055051.1:p.Trp220Cys
NM_001316350.2:c.477G>T	NP_001303279.1:p.Trp159Cys