Canonical Allele Identifier: CA394187067

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411952C>T (hg19) ; chr16:g.1361951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361951C>T , CM000678.2:g.1361951C>T	GRCh38
NC_000016.9:g.1411952C>T , CM000678.1:g.1411952C>T	GRCh37
NC_000016.8:g.1351953C>T	NCBI36
NG_016985.1:g.15053C>T
NG_033129.1:g.57754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.412C>T
ENST00000529110.2:c.397C>T	ENSP00000435349.2:p.Leu133Phe
ENST00000529957.6:n.371C>T
ENST00000683366.1:c.*45C>T	ENSP00000507283.1:n.*45C>T
ENST00000683887.1:c.361C>T	ENSP00000506886.1:p.Leu121Phe
ENST00000684100.1:n.307C>T
ENST00000684126.1:n.371C>T
ENST00000684688.1:n.938C>T
ENST00000204679.9:c.313C>T MANE Select	ENSP00000204679.4:p.Leu105Phe
ENST00000204679.8:c.313C>T	ENSP00000204679.4:p.Leu105Phe
ENST00000526820.5:c.*215C>T	ENSP00000434413.1:n.*215C>T
ENST00000527076.1:n.1329C>T
ENST00000527168.5:n.349C>T
ENST00000529110.1:c.380C>T
ENST00000529957.5:n.412C>T
NM_032520.4:c.313C>T	NP_115909.1:p.Leu105Phe
XM_017023782.1:c.361C>T	XP_016879271.1:p.Leu121Phe
XM_017023783.1:c.-48C>T	XP_016879272.1:n.-48C>T
NM_032520.5:c.313C>T MANE Select	NP_115909.1:p.Leu105Phe