Canonical Allele Identifier: CA7807938

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1383772
• ClinVar RCV Id: RCV001892854
• dbSNP Id: rs376896298
• ExAC: 16:1412839 T / C
• gnomAD v2: 16-1412839-T-C
• gnomAD v3: 16-1362838-T-C
• gnomAD v4: 16-1362838-T-C
• MyVariant Identifiers: chr16:g.1412839T>C (hg19) ; chr16:g.1362838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362838T>C , CM000678.2:g.1362838T>C	GRCh38
NC_000016.9:g.1412839T>C , CM000678.1:g.1412839T>C	GRCh37
NC_000016.8:g.1352840T>C	NCBI36
NG_016985.1:g.15940T>C
NG_033129.1:g.56867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.854T>C
ENST00000529110.2:c.839T>C	ENSP00000435349.2:p.Leu280Pro
ENST00000529957.6:n.813T>C
ENST00000683366.1:c.*487T>C	ENSP00000507283.1:n.*487T>C
ENST00000683887.1:c.803T>C	ENSP00000506886.1:p.Leu268Pro
ENST00000684100.1:n.749T>C
ENST00000684126.1:n.889T>C
ENST00000684688.1:n.1380T>C
ENST00000204679.9:c.755T>C MANE Select	ENSP00000204679.4:p.Leu252Pro
ENST00000204679.8:c.755T>C	ENSP00000204679.4:p.Leu252Pro
ENST00000527076.1:n.1978T>C
ENST00000527168.5:n.922T>C
ENST00000529957.5:n.854T>C
NM_032520.4:c.755T>C	NP_115909.1:p.Leu252Pro
XM_017023782.1:c.803T>C	XP_016879271.1:p.Leu268Pro
XM_017023783.1:c.395T>C	XP_016879272.1:p.Leu132Pro
NM_032520.5:c.755T>C MANE Select	NP_115909.1:p.Leu252Pro