Canonical Allele Identifier: CA394187156

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412040A>C (hg19) ; chr16:g.1362039A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362039A>C , CM000678.2:g.1362039A>C	GRCh38
NC_000016.9:g.1412040A>C , CM000678.1:g.1412040A>C	GRCh37
NC_000016.8:g.1352041A>C	NCBI36
NG_016985.1:g.15141A>C
NG_033129.1:g.57666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.418A>C
ENST00000529110.2:c.403A>C	ENSP00000435349.2:p.Ile135Leu
ENST00000529957.6:n.377A>C
ENST00000683366.1:c.*51A>C	ENSP00000507283.1:n.*51A>C
ENST00000683887.1:c.367A>C	ENSP00000506886.1:p.Ile123Leu
ENST00000684100.1:n.313A>C
ENST00000684126.1:n.377A>C
ENST00000684688.1:n.944A>C
ENST00000204679.9:c.319A>C MANE Select	ENSP00000204679.4:p.Ile107Leu
ENST00000204679.8:c.319A>C	ENSP00000204679.4:p.Ile107Leu
ENST00000526820.5:c.*221A>C	ENSP00000434413.1:n.*221A>C
ENST00000527076.1:n.1335A>C
ENST00000527168.5:n.355A>C
ENST00000529110.1:c.386A>C
ENST00000529957.5:n.418A>C
NM_032520.4:c.319A>C	NP_115909.1:p.Ile107Leu
XM_017023782.1:c.367A>C	XP_016879271.1:p.Ile123Leu
XM_017023783.1:c.-42A>C	XP_016879272.1:n.-42A>C
NM_032520.5:c.319A>C MANE Select	NP_115909.1:p.Ile107Leu