Canonical Allele Identifier: CA345233488

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265417-A-T
• MyVariant Identifiers: chr1:g.231401163A>T (hg19) ; chr1:g.231265417A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265417A>T , CM000663.2:g.231265417A>T	GRCh38
NC_000001.10:g.231401163A>T , CM000663.1:g.231401163A>T	GRCh37
NC_000001.9:g.229467786A>T	NCBI36
NG_008240.1:g.29245A>T
NG_008240.2:g.29245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.693A>T MANE Select	ENSP00000355607.4:p.Leu231Phe
ENST00000644483.1:c.*379A>T	ENSP00000496537.1:n.*379A>T
ENST00000366647.8:c.693A>T	ENSP00000355607.4:p.Leu231Phe
ENST00000416000.1:c.663A>T	ENSP00000411640.1:p.Leu221Phe
ENST00000436239.5:c.510A>T	ENSP00000402811.1:p.Leu170Phe
NM_001316350.1:c.510A>T	NP_001303279.1:p.Leu170Phe
NM_014236.3:c.693A>T	NP_055051.1:p.Leu231Phe
XM_005273313.3:c.690A>T	XP_005273370.1:p.Leu230Phe
XM_011544303.1:c.366A>T	XP_011542605.1:p.Leu122Phe
XM_011544304.1:c.366A>T	XP_011542606.1:p.Leu122Phe
XM_005273313.4:c.690A>T	XP_005273370.1:p.Leu230Phe
XM_011544303.3:c.366A>T	XP_011542605.1:p.Leu122Phe
XM_011544304.2:c.366A>T	XP_011542606.1:p.Leu122Phe
NM_014236.4:c.693A>T MANE Select	NP_055051.1:p.Leu231Phe
NM_001316350.2:c.510A>T	NP_001303279.1:p.Leu170Phe