Canonical Allele Identifier: CA395786333

Gene: GPT2

Linked Data

• dbSNP Id: rs774725470
• gnomAD v4: 16-46922415-G-T
• MyVariant Identifiers: chr16:g.46956327G>T (hg19) ; chr16:g.46922415G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922415G>T , CM000678.2:g.46922415G>T	GRCh38
NC_000016.9:g.46956327G>T , CM000678.1:g.46956327G>T	GRCh37
NC_000016.8:g.45513828G>T	NCBI36
NG_042110.1:g.43036G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.1211G>T MANE Select	ENSP00000345282.4:p.Arg404Leu
ENST00000340124.8:c.1211G>T	ENSP00000345282.4:p.Arg404Leu
ENST00000440783.2:c.911G>T	ENSP00000413804.2:p.Arg304Leu
ENST00000562801.5:n.1721G>T
NM_001142466.1:c.911G>T	NP_001135938.1:p.Arg304Leu
NM_001142466.2:c.911G>T	NP_001135938.1:p.Arg304Leu
NM_133443.2:c.1211G>T	NP_597700.1:p.Arg404Leu
NM_133443.3:c.1211G>T	NP_597700.1:p.Arg404Leu
XM_017023790.1:c.779G>T	XP_016879279.1:p.Arg260Leu
NM_133443.4:c.1211G>T MANE Select	NP_597700.1:p.Arg404Leu
NM_001142466.3:c.911G>T	NP_001135938.1:p.Arg304Leu