Canonical Allele Identifier: CA394188371

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412537T>C (hg19) ; chr16:g.1362536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362536T>C , CM000678.2:g.1362536T>C	GRCh38
NC_000016.9:g.1412537T>C , CM000678.1:g.1412537T>C	GRCh37
NC_000016.8:g.1352538T>C	NCBI36
NG_016985.1:g.15638T>C
NG_033129.1:g.57169A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+2T>C
ENST00000529110.2:c.693+2T>C	ENSP00000435349.2:n.693+2T>C
ENST00000529957.6:n.667+2T>C
ENST00000683366.1:c.*341+2T>C	ENSP00000507283.1:n.*341+2T>C
ENST00000683887.1:c.657+2T>C	ENSP00000506886.1:n.657+2T>C
ENST00000684100.1:n.603+2T>C
ENST00000684126.1:n.669T>C
ENST00000684688.1:n.1234+2T>C
ENST00000204679.9:c.609+2T>C MANE Select	ENSP00000204679.4:n.609+2T>C
ENST00000204679.8:c.609+2T>C	ENSP00000204679.4:n.609+2T>C
ENST00000527076.1:n.1758T>C
ENST00000527168.5:n.776+2T>C
ENST00000529957.5:n.708+2T>C
NM_032520.4:c.609+2T>C	NP_115909.1:n.609+2T>C
XM_017023782.1:c.657+2T>C	XP_016879271.1:n.657+2T>C
XM_017023783.1:c.249+2T>C	XP_016879272.1:n.249+2T>C
NM_032520.5:c.609+2T>C MANE Select	NP_115909.1:n.609+2T>C