Canonical Allele Identifier: CA394186577

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411779T>A (hg19) ; chr16:g.1361778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361778T>A , CM000678.2:g.1361778T>A	GRCh38
NC_000016.9:g.1411779T>A , CM000678.1:g.1411779T>A	GRCh37
NC_000016.8:g.1351780T>A	NCBI36
NG_016985.1:g.14880T>A
NG_033129.1:g.57927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.313T>A
ENST00000529110.2:c.298T>A	ENSP00000435349.2:p.Phe100Ile
ENST00000529957.6:n.272T>A
ENST00000683366.1:c.179-94T>A	ENSP00000507283.1:n.179-94T>A
ENST00000683887.1:c.262T>A	ENSP00000506886.1:p.Phe88Ile
ENST00000684100.1:n.134T>A
ENST00000684126.1:n.272T>A
ENST00000684688.1:n.839T>A
ENST00000204679.9:c.214T>A MANE Select	ENSP00000204679.4:p.Phe72Ile
ENST00000204679.8:c.214T>A	ENSP00000204679.4:p.Phe72Ile
ENST00000526820.5:c.*116T>A	ENSP00000434413.1:n.*116T>A
ENST00000527076.1:n.1156T>A
ENST00000527168.5:n.270-94T>A
ENST00000529110.1:c.281T>A
ENST00000529957.5:n.313T>A
NM_032520.4:c.214T>A	NP_115909.1:p.Phe72Ile
XM_017023782.1:c.262T>A	XP_016879271.1:p.Phe88Ile
XM_017023783.1:c.-147T>A	XP_016879272.1:n.-147T>A
NM_032520.5:c.214T>A MANE Select	NP_115909.1:p.Phe72Ile