Canonical Allele Identifier: CA7807740

Gene: GNPTG

Linked Data

• dbSNP Id: rs751140111
• ExAC: 16:1412295 T / C
• gnomAD v2: 16-1412295-T-C
• gnomAD v4: 16-1362294-T-C
• MyVariant Identifiers: chr16:g.1412295T>C (hg19) ; chr16:g.1362294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362294T>C , CM000678.2:g.1362294T>C	GRCh38
NC_000016.9:g.1412295T>C , CM000678.1:g.1412295T>C	GRCh37
NC_000016.8:g.1352296T>C	NCBI36
NG_016985.1:g.15396T>C
NG_033129.1:g.57411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.599T>C
ENST00000529110.2:c.584T>C	ENSP00000435349.2:p.Leu195Pro
ENST00000529957.6:n.558T>C
ENST00000683366.1:c.*232T>C	ENSP00000507283.1:n.*232T>C
ENST00000683887.1:c.548T>C	ENSP00000506886.1:p.Leu183Pro
ENST00000684100.1:n.494T>C
ENST00000684126.1:n.558T>C
ENST00000684688.1:n.1125T>C
ENST00000204679.9:c.500T>C MANE Select	ENSP00000204679.4:p.Leu167Pro
ENST00000204679.8:c.500T>C	ENSP00000204679.4:p.Leu167Pro
ENST00000527076.1:n.1516T>C
ENST00000527168.5:n.536T>C
ENST00000529957.5:n.599T>C
NM_032520.4:c.500T>C	NP_115909.1:p.Leu167Pro
XM_017023782.1:c.548T>C	XP_016879271.1:p.Leu183Pro
XM_017023783.1:c.140T>C	XP_016879272.1:p.Leu47Pro
NM_032520.5:c.500T>C MANE Select	NP_115909.1:p.Leu167Pro