Canonical Allele Identifier: CA394187838

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412267G>C (hg19) ; chr16:g.1362266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362266G>C , CM000678.2:g.1362266G>C	GRCh38
NC_000016.9:g.1412267G>C , CM000678.1:g.1412267G>C	GRCh37
NC_000016.8:g.1352268G>C	NCBI36
NG_016985.1:g.15368G>C
NG_033129.1:g.57439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.571G>C
ENST00000529110.2:c.556G>C	ENSP00000435349.2:p.Val186Leu
ENST00000529957.6:n.530G>C
ENST00000683366.1:c.*204G>C	ENSP00000507283.1:n.*204G>C
ENST00000683887.1:c.520G>C	ENSP00000506886.1:p.Val174Leu
ENST00000684100.1:n.466G>C
ENST00000684126.1:n.530G>C
ENST00000684688.1:n.1097G>C
ENST00000204679.9:c.472G>C MANE Select	ENSP00000204679.4:p.Val158Leu
ENST00000204679.8:c.472G>C	ENSP00000204679.4:p.Val158Leu
ENST00000527076.1:n.1488G>C
ENST00000527168.5:n.508G>C
ENST00000529110.1:c.539G>C
ENST00000529957.5:n.571G>C
NM_032520.4:c.472G>C	NP_115909.1:p.Val158Leu
XM_017023782.1:c.520G>C	XP_016879271.1:p.Val174Leu
XM_017023783.1:c.112G>C	XP_016879272.1:p.Val38Leu
NM_032520.5:c.472G>C MANE Select	NP_115909.1:p.Val158Leu