Canonical Allele Identifier: CA394187762

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412249T>C (hg19) ; chr16:g.1362248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362248T>C , CM000678.2:g.1362248T>C	GRCh38
NC_000016.9:g.1412249T>C , CM000678.1:g.1412249T>C	GRCh37
NC_000016.8:g.1352250T>C	NCBI36
NG_016985.1:g.15350T>C
NG_033129.1:g.57457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.553T>C
ENST00000529110.2:c.538T>C	ENSP00000435349.2:p.Ser180Pro
ENST00000529957.6:n.512T>C
ENST00000683366.1:c.*186T>C	ENSP00000507283.1:n.*186T>C
ENST00000683887.1:c.502T>C	ENSP00000506886.1:p.Ser168Pro
ENST00000684100.1:n.448T>C
ENST00000684126.1:n.512T>C
ENST00000684688.1:n.1079T>C
ENST00000204679.9:c.454T>C MANE Select	ENSP00000204679.4:p.Ser152Pro
ENST00000204679.8:c.454T>C	ENSP00000204679.4:p.Ser152Pro
ENST00000527076.1:n.1470T>C
ENST00000527168.5:n.490T>C
ENST00000529110.1:c.521T>C
ENST00000529957.5:n.553T>C
NM_032520.4:c.454T>C	NP_115909.1:p.Ser152Pro
XM_017023782.1:c.502T>C	XP_016879271.1:p.Ser168Pro
XM_017023783.1:c.94T>C	XP_016879272.1:p.Ser32Pro
NM_032520.5:c.454T>C MANE Select	NP_115909.1:p.Ser152Pro