Canonical Allele Identifier: CA345233129

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 3010116
• ClinVar RCV Id: RCV003867291
• gnomAD v4: 1-231265328-C-T
• MyVariant Identifiers: chr1:g.231401074C>T (hg19) ; chr1:g.231265328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265328C>T , CM000663.2:g.231265328C>T	GRCh38
NC_000001.10:g.231401074C>T , CM000663.1:g.231401074C>T	GRCh37
NC_000001.9:g.229467697C>T	NCBI36
NG_008240.1:g.29156C>T
NG_008240.2:g.29156C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.604C>T MANE Select	ENSP00000355607.4:p.Arg202Ter
ENST00000644483.1:c.*290C>T	ENSP00000496537.1:n.*290C>T
ENST00000366647.8:c.604C>T	ENSP00000355607.4:p.Arg202Ter
ENST00000416000.1:c.574C>T	ENSP00000411640.1:p.Arg192Ter
ENST00000436239.5:c.421C>T	ENSP00000402811.1:p.Arg141Ter
NM_001316350.1:c.421C>T	NP_001303279.1:p.Arg141Ter
NM_014236.3:c.604C>T	NP_055051.1:p.Arg202Ter
XM_005273313.3:c.601C>T	XP_005273370.1:p.Arg201Ter
XM_011544303.1:c.277C>T	XP_011542605.1:p.Arg93Ter
XM_011544304.1:c.277C>T	XP_011542606.1:p.Arg93Ter
XM_005273313.4:c.601C>T	XP_005273370.1:p.Arg201Ter
XM_011544303.3:c.277C>T	XP_011542605.1:p.Arg93Ter
XM_011544304.2:c.277C>T	XP_011542606.1:p.Arg93Ter
NM_014236.4:c.604C>T MANE Select	NP_055051.1:p.Arg202Ter
NM_001316350.2:c.421C>T	NP_001303279.1:p.Arg141Ter