Canonical Allele Identifier: CA345233083

Gene: GNPAT

Linked Data

• dbSNP Id: rs1468881215
• gnomAD v2: 1-231401060-T-C
• gnomAD v4: 1-231265314-T-C
• MyVariant Identifiers: chr1:g.231401060T>C (hg19) ; chr1:g.231265314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265314T>C , CM000663.2:g.231265314T>C	GRCh38
NC_000001.10:g.231401060T>C , CM000663.1:g.231401060T>C	GRCh37
NC_000001.9:g.229467683T>C	NCBI36
NG_008240.1:g.29142T>C
NG_008240.2:g.29142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.590T>C MANE Select	ENSP00000355607.4:p.Val197Ala
ENST00000644483.1:c.*276T>C	ENSP00000496537.1:n.*276T>C
ENST00000366647.8:c.590T>C	ENSP00000355607.4:p.Val197Ala
ENST00000416000.1:c.560T>C	ENSP00000411640.1:p.Val187Ala
ENST00000436239.5:c.407T>C	ENSP00000402811.1:p.Val136Ala
NM_001316350.1:c.407T>C	NP_001303279.1:p.Val136Ala
NM_014236.3:c.590T>C	NP_055051.1:p.Val197Ala
XM_005273313.3:c.587T>C	XP_005273370.1:p.Val196Ala
XM_011544303.1:c.263T>C	XP_011542605.1:p.Val88Ala
XM_011544304.1:c.263T>C	XP_011542606.1:p.Val88Ala
XM_005273313.4:c.587T>C	XP_005273370.1:p.Val196Ala
XM_011544303.3:c.263T>C	XP_011542605.1:p.Val88Ala
XM_011544304.2:c.263T>C	XP_011542606.1:p.Val88Ala
NM_014236.4:c.590T>C MANE Select	NP_055051.1:p.Val197Ala
NM_001316350.2:c.407T>C	NP_001303279.1:p.Val136Ala