Canonical Allele Identifier: CA423902096

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265294-C-T
• MyVariant Identifiers: chr1:g.231401040C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265294C>T , CM000663.2:g.231265294C>T	GRCh38
NC_000001.10:g.231401040C>T , CM000663.1:g.231401040C>T	GRCh37
NC_000001.9:g.229467663C>T	NCBI36
NG_008240.1:g.29122C>T
NG_008240.2:g.29122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.570C>T MANE Select	ENSP00000355607.4:p.Asp190=
ENST00000644483.1:c.*256C>T	ENSP00000496537.1:n.*256C>T
ENST00000366647.8:c.570C>T	ENSP00000355607.4:p.Asp190=
ENST00000416000.1:c.540C>T	ENSP00000411640.1:p.Asp180=
ENST00000436239.5:c.387C>T	ENSP00000402811.1:p.Asp129=
NM_001316350.1:c.387C>T	NP_001303279.1:p.Asp129=
NM_014236.3:c.570C>T	NP_055051.1:p.Asp190=
XM_005273313.3:c.567C>T	XP_005273370.1:p.Asp189=
XM_011544303.1:c.243C>T	XP_011542605.1:p.Asp81=
XM_011544304.1:c.243C>T	XP_011542606.1:p.Asp81=
XM_005273313.4:c.567C>T	XP_005273370.1:p.Asp189=
XM_011544303.3:c.243C>T	XP_011542605.1:p.Asp81=
XM_011544304.2:c.243C>T	XP_011542606.1:p.Asp81=
NM_014236.4:c.570C>T MANE Select	NP_055051.1:p.Asp190=
NM_001316350.2:c.387C>T	NP_001303279.1:p.Asp129=