Canonical Allele Identifier: CA345233188

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265343-T-C
• MyVariant Identifiers: chr1:g.231401089T>C (hg19) ; chr1:g.231265343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265343T>C , CM000663.2:g.231265343T>C	GRCh38
NC_000001.10:g.231401089T>C , CM000663.1:g.231401089T>C	GRCh37
NC_000001.9:g.229467712T>C	NCBI36
NG_008240.1:g.29171T>C
NG_008240.2:g.29171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.619T>C MANE Select	ENSP00000355607.4:p.Phe207Leu
ENST00000644483.1:c.*305T>C	ENSP00000496537.1:n.*305T>C
ENST00000366647.8:c.619T>C	ENSP00000355607.4:p.Phe207Leu
ENST00000416000.1:c.589T>C	ENSP00000411640.1:p.Phe197Leu
ENST00000436239.5:c.436T>C	ENSP00000402811.1:p.Phe146Leu
NM_001316350.1:c.436T>C	NP_001303279.1:p.Phe146Leu
NM_014236.3:c.619T>C	NP_055051.1:p.Phe207Leu
XM_005273313.3:c.616T>C	XP_005273370.1:p.Phe206Leu
XM_011544303.1:c.292T>C	XP_011542605.1:p.Phe98Leu
XM_011544304.1:c.292T>C	XP_011542606.1:p.Phe98Leu
XM_005273313.4:c.616T>C	XP_005273370.1:p.Phe206Leu
XM_011544303.3:c.292T>C	XP_011542605.1:p.Phe98Leu
XM_011544304.2:c.292T>C	XP_011542606.1:p.Phe98Leu
NM_014236.4:c.619T>C MANE Select	NP_055051.1:p.Phe207Leu
NM_001316350.2:c.436T>C	NP_001303279.1:p.Phe146Leu