Canonical Allele Identifier: CA394187296

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412090G>T (hg19) ; chr16:g.1362089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362089G>T , CM000678.2:g.1362089G>T	GRCh38
NC_000016.9:g.1412090G>T , CM000678.1:g.1412090G>T	GRCh37
NC_000016.8:g.1352091G>T	NCBI36
NG_016985.1:g.15191G>T
NG_033129.1:g.57616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.468G>T
ENST00000529110.2:c.453G>T	ENSP00000435349.2:p.Met151Ile
ENST00000529957.6:n.427G>T
ENST00000683366.1:c.*101G>T	ENSP00000507283.1:n.*101G>T
ENST00000683887.1:c.417G>T	ENSP00000506886.1:p.Met139Ile
ENST00000684100.1:n.363G>T
ENST00000684126.1:n.427G>T
ENST00000684688.1:n.994G>T
ENST00000204679.9:c.369G>T MANE Select	ENSP00000204679.4:p.Met123Ile
ENST00000204679.8:c.369G>T	ENSP00000204679.4:p.Met123Ile
ENST00000526820.5:c.*271G>T	ENSP00000434413.1:n.*271G>T
ENST00000527076.1:n.1385G>T
ENST00000527168.5:n.405G>T
ENST00000529110.1:c.436G>T
ENST00000529957.5:n.468G>T
NM_032520.4:c.369G>T	NP_115909.1:p.Met123Ile
XM_017023782.1:c.417G>T	XP_016879271.1:p.Met139Ile
XM_017023783.1:c.9G>T	XP_016879272.1:p.Met3Ile
NM_032520.5:c.369G>T MANE Select	NP_115909.1:p.Met123Ile