Canonical Allele Identifier: CA394187742

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412244A>C (hg19) ; chr16:g.1362243A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362243A>C , CM000678.2:g.1362243A>C	GRCh38
NC_000016.9:g.1412244A>C , CM000678.1:g.1412244A>C	GRCh37
NC_000016.8:g.1352245A>C	NCBI36
NG_016985.1:g.15345A>C
NG_033129.1:g.57462T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.548A>C
ENST00000529110.2:c.533A>C	ENSP00000435349.2:p.His178Pro
ENST00000529957.6:n.507A>C
ENST00000683366.1:c.*181A>C	ENSP00000507283.1:n.*181A>C
ENST00000683887.1:c.497A>C	ENSP00000506886.1:p.His166Pro
ENST00000684100.1:n.443A>C
ENST00000684126.1:n.507A>C
ENST00000684688.1:n.1074A>C
ENST00000204679.9:c.449A>C MANE Select	ENSP00000204679.4:p.His150Pro
ENST00000204679.8:c.449A>C	ENSP00000204679.4:p.His150Pro
ENST00000527076.1:n.1465A>C
ENST00000527168.5:n.485A>C
ENST00000529110.1:c.516A>C
ENST00000529957.5:n.548A>C
NM_032520.4:c.449A>C	NP_115909.1:p.His150Pro
XM_017023782.1:c.497A>C	XP_016879271.1:p.His166Pro
XM_017023783.1:c.89A>C	XP_016879272.1:p.His30Pro
NM_032520.5:c.449A>C MANE Select	NP_115909.1:p.His150Pro