Canonical Allele Identifier: CA394188758

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362871-T-C
• MyVariant Identifiers: chr16:g.1412872T>C (hg19) ; chr16:g.1362871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362871T>C , CM000678.2:g.1362871T>C	GRCh38
NC_000016.9:g.1412872T>C , CM000678.1:g.1412872T>C	GRCh37
NC_000016.8:g.1352873T>C	NCBI36
NG_016985.1:g.15973T>C
NG_033129.1:g.56834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.887T>C
ENST00000529110.2:c.872T>C	ENSP00000435349.2:p.Leu291Pro
ENST00000529957.6:n.846T>C
ENST00000683366.1:c.*520T>C	ENSP00000507283.1:n.*520T>C
ENST00000683887.1:c.836T>C	ENSP00000506886.1:p.Leu279Pro
ENST00000684100.1:n.782T>C
ENST00000684126.1:n.922T>C
ENST00000684688.1:n.1413T>C
ENST00000204679.9:c.788T>C MANE Select	ENSP00000204679.4:p.Leu263Pro
ENST00000204679.8:c.788T>C	ENSP00000204679.4:p.Leu263Pro
ENST00000527076.1:n.2011T>C
ENST00000527168.5:n.955T>C
ENST00000529957.5:n.887T>C
NM_032520.4:c.788T>C	NP_115909.1:p.Leu263Pro
XM_017023782.1:c.836T>C	XP_016879271.1:p.Leu279Pro
XM_017023783.1:c.428T>C	XP_016879272.1:p.Leu143Pro
NM_032520.5:c.788T>C MANE Select	NP_115909.1:p.Leu263Pro