Canonical Allele Identifier: CA394187161

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412041T>C (hg19) ; chr16:g.1362040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362040T>C , CM000678.2:g.1362040T>C	GRCh38
NC_000016.9:g.1412041T>C , CM000678.1:g.1412041T>C	GRCh37
NC_000016.8:g.1352042T>C	NCBI36
NG_016985.1:g.15142T>C
NG_033129.1:g.57665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.419T>C
ENST00000529110.2:c.404T>C	ENSP00000435349.2:p.Ile135Thr
ENST00000529957.6:n.378T>C
ENST00000683366.1:c.*52T>C	ENSP00000507283.1:n.*52T>C
ENST00000683887.1:c.368T>C	ENSP00000506886.1:p.Ile123Thr
ENST00000684100.1:n.314T>C
ENST00000684126.1:n.378T>C
ENST00000684688.1:n.945T>C
ENST00000204679.9:c.320T>C MANE Select	ENSP00000204679.4:p.Ile107Thr
ENST00000204679.8:c.320T>C	ENSP00000204679.4:p.Ile107Thr
ENST00000526820.5:c.*222T>C	ENSP00000434413.1:n.*222T>C
ENST00000527076.1:n.1336T>C
ENST00000527168.5:n.356T>C
ENST00000529110.1:c.387T>C
ENST00000529957.5:n.419T>C
NM_032520.4:c.320T>C	NP_115909.1:p.Ile107Thr
XM_017023782.1:c.368T>C	XP_016879271.1:p.Ile123Thr
XM_017023783.1:c.-41T>C	XP_016879272.1:n.-41T>C
NM_032520.5:c.320T>C MANE Select	NP_115909.1:p.Ile107Thr