Canonical Allele Identifier: CA394186769

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2133511
• ClinVar RCV Id: RCV003040969
• dbSNP Id: rs779778381
• gnomAD v3: 16-1361880-A-C
• gnomAD v4: 16-1361880-A-C
• MyVariant Identifiers: chr16:g.1411881A>C (hg19) ; chr16:g.1361880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361880A>C , CM000678.2:g.1361880A>C	GRCh38
NC_000016.9:g.1411881A>C , CM000678.1:g.1411881A>C	GRCh37
NC_000016.8:g.1351882A>C	NCBI36
NG_016985.1:g.14982A>C
NG_033129.1:g.57825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.341A>C
ENST00000529110.2:c.326A>C	ENSP00000435349.2:p.Tyr109Ser
ENST00000529957.6:n.300A>C
ENST00000683366.1:c.187A>C	ENSP00000507283.1:p.Met63Leu
ENST00000683887.1:c.290A>C	ENSP00000506886.1:p.Tyr97Ser
ENST00000684100.1:n.236A>C
ENST00000684126.1:n.300A>C
ENST00000684688.1:n.867A>C
ENST00000204679.9:c.242A>C MANE Select	ENSP00000204679.4:p.Tyr81Ser
ENST00000204679.8:c.242A>C	ENSP00000204679.4:p.Tyr81Ser
ENST00000526820.5:c.*144A>C	ENSP00000434413.1:n.*144A>C
ENST00000527076.1:n.1258A>C
ENST00000527168.5:n.278A>C
ENST00000529110.1:c.309A>C
ENST00000529957.5:n.341A>C
NM_032520.4:c.242A>C	NP_115909.1:p.Tyr81Ser
XM_017023782.1:c.290A>C	XP_016879271.1:p.Tyr97Ser
XM_017023783.1:c.-119A>C	XP_016879272.1:n.-119A>C
NM_032520.5:c.242A>C MANE Select	NP_115909.1:p.Tyr81Ser