Canonical Allele Identifier: CA394188408

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034925035
• MyVariant Identifiers: chr16:g.1412626G>C (hg19) ; chr16:g.1362625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362625G>C , CM000678.2:g.1362625G>C	GRCh38
NC_000016.9:g.1412626G>C , CM000678.1:g.1412626G>C	GRCh37
NC_000016.8:g.1352627G>C	NCBI36
NG_016985.1:g.15727G>C
NG_033129.1:g.57080C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.723G>C
ENST00000529110.2:c.708G>C	ENSP00000435349.2:p.Leu236Phe
ENST00000529957.6:n.682G>C
ENST00000683366.1:c.*356G>C	ENSP00000507283.1:n.*356G>C
ENST00000683887.1:c.672G>C	ENSP00000506886.1:p.Leu224Phe
ENST00000684100.1:n.618G>C
ENST00000684126.1:n.758G>C
ENST00000684688.1:n.1249G>C
ENST00000204679.9:c.624G>C MANE Select	ENSP00000204679.4:p.Leu208Phe
ENST00000204679.8:c.624G>C	ENSP00000204679.4:p.Leu208Phe
ENST00000527076.1:n.1847G>C
ENST00000527168.5:n.791G>C
ENST00000529957.5:n.723G>C
NM_032520.4:c.624G>C	NP_115909.1:p.Leu208Phe
XM_017023782.1:c.672G>C	XP_016879271.1:p.Leu224Phe
XM_017023783.1:c.264G>C	XP_016879272.1:p.Leu88Phe
NM_032520.5:c.624G>C MANE Select	NP_115909.1:p.Leu208Phe