Canonical Allele Identifier: CA276657790

Gene: GNPTG

Linked Data

• dbSNP Id: rs936011579
• gnomAD v4: 16-1362320-G-C
• MyVariant Identifiers: chr16:g.1412321G>C (hg19) ; chr16:g.1362320G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362320G>C , CM000678.2:g.1362320G>C	GRCh38
NC_000016.9:g.1412321G>C , CM000678.1:g.1412321G>C	GRCh37
NC_000016.8:g.1352322G>C	NCBI36
NG_016985.1:g.15422G>C
NG_033129.1:g.57385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625G>C
ENST00000529110.2:c.610G>C	ENSP00000435349.2:p.Val204Leu
ENST00000529957.6:n.584G>C
ENST00000683366.1:c.*258G>C	ENSP00000507283.1:n.*258G>C
ENST00000683887.1:c.574G>C	ENSP00000506886.1:p.Val192Leu
ENST00000684100.1:n.520G>C
ENST00000684126.1:n.584G>C
ENST00000684688.1:n.1151G>C
ENST00000204679.9:c.526G>C MANE Select	ENSP00000204679.4:p.Val176Leu
ENST00000204679.8:c.526G>C	ENSP00000204679.4:p.Val176Leu
ENST00000527076.1:n.1542G>C
ENST00000527168.5:n.562G>C
ENST00000529957.5:n.625G>C
NM_032520.4:c.526G>C	NP_115909.1:p.Val176Leu
XM_017023782.1:c.574G>C	XP_016879271.1:p.Val192Leu
XM_017023783.1:c.166G>C	XP_016879272.1:p.Val56Leu
NM_032520.5:c.526G>C MANE Select	NP_115909.1:p.Val176Leu