Canonical Allele Identifier: CA394188586

Gene: GNPTG

Linked Data

• dbSNP Id: rs1443489626
• gnomAD v2: 16-1412713-G-C
• gnomAD v4: 16-1362712-G-C
• MyVariant Identifiers: chr16:g.1412713G>C (hg19) ; chr16:g.1362712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362712G>C , CM000678.2:g.1362712G>C	GRCh38
NC_000016.9:g.1412713G>C , CM000678.1:g.1412713G>C	GRCh37
NC_000016.8:g.1352714G>C	NCBI36
NG_016985.1:g.15814G>C
NG_033129.1:g.56993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.810G>C
ENST00000529110.2:c.795G>C	ENSP00000435349.2:p.Leu265Phe
ENST00000529957.6:n.769G>C
ENST00000683366.1:c.*443G>C	ENSP00000507283.1:n.*443G>C
ENST00000683887.1:c.759G>C	ENSP00000506886.1:p.Leu253Phe
ENST00000684100.1:n.705G>C
ENST00000684126.1:n.845G>C
ENST00000684688.1:n.1336G>C
ENST00000204679.9:c.711G>C MANE Select	ENSP00000204679.4:p.Leu237Phe
ENST00000204679.8:c.711G>C	ENSP00000204679.4:p.Leu237Phe
ENST00000527076.1:n.1934G>C
ENST00000527168.5:n.878G>C
ENST00000529957.5:n.810G>C
NM_032520.4:c.711G>C	NP_115909.1:p.Leu237Phe
XM_017023782.1:c.759G>C	XP_016879271.1:p.Leu253Phe
XM_017023783.1:c.351G>C	XP_016879272.1:p.Leu117Phe
NM_032520.5:c.711G>C MANE Select	NP_115909.1:p.Leu237Phe