Canonical Allele Identifier: CA1451849

Gene: GNPAT

Linked Data

• dbSNP Id: rs750828898
• ExAC: 1:231401164 C / T
• gnomAD v2: 1-231401164-C-T
• gnomAD v3: 1-231265418-C-T
• gnomAD v4: 1-231265418-C-T
• COSMIC: COSM905465
• MyVariant Identifiers: chr1:g.231401164C>T (hg19) ; chr1:g.231265418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265418C>T , CM000663.2:g.231265418C>T	GRCh38
NC_000001.10:g.231401164C>T , CM000663.1:g.231401164C>T	GRCh37
NC_000001.9:g.229467787C>T	NCBI36
NG_008240.1:g.29246C>T
NG_008240.2:g.29246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.694C>T MANE Select	ENSP00000355607.4:p.Arg232Trp
ENST00000644483.1:c.*380C>T	ENSP00000496537.1:n.*380C>T
ENST00000366647.8:c.694C>T	ENSP00000355607.4:p.Arg232Trp
ENST00000416000.1:c.664C>T	ENSP00000411640.1:p.Arg222Trp
ENST00000436239.5:c.511C>T	ENSP00000402811.1:p.Arg171Trp
NM_001316350.1:c.511C>T	NP_001303279.1:p.Arg171Trp
NM_014236.3:c.694C>T	NP_055051.1:p.Arg232Trp
XM_005273313.3:c.691C>T	XP_005273370.1:p.Arg231Trp
XM_011544303.1:c.367C>T	XP_011542605.1:p.Arg123Trp
XM_011544304.1:c.367C>T	XP_011542606.1:p.Arg123Trp
XM_005273313.4:c.691C>T	XP_005273370.1:p.Arg231Trp
XM_011544303.3:c.367C>T	XP_011542605.1:p.Arg123Trp
XM_011544304.2:c.367C>T	XP_011542606.1:p.Arg123Trp
NM_014236.4:c.694C>T MANE Select	NP_055051.1:p.Arg232Trp
NM_001316350.2:c.511C>T	NP_001303279.1:p.Arg171Trp