Canonical Allele Identifier: CA394187950

Gene: GNPTG

Linked Data

• dbSNP Id: rs1194591382
• gnomAD v2: 16-1412315-T-G
• gnomAD v3: 16-1362314-T-G
• gnomAD v4: 16-1362314-T-G
• MyVariant Identifiers: chr16:g.1412315T>G (hg19) ; chr16:g.1362314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362314T>G , CM000678.2:g.1362314T>G	GRCh38
NC_000016.9:g.1412315T>G , CM000678.1:g.1412315T>G	GRCh37
NC_000016.8:g.1352316T>G	NCBI36
NG_016985.1:g.15416T>G
NG_033129.1:g.57391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.619T>G
ENST00000529110.2:c.604T>G	ENSP00000435349.2:p.Leu202Val
ENST00000529957.6:n.578T>G
ENST00000683366.1:c.*252T>G	ENSP00000507283.1:n.*252T>G
ENST00000683887.1:c.568T>G	ENSP00000506886.1:p.Leu190Val
ENST00000684100.1:n.514T>G
ENST00000684126.1:n.578T>G
ENST00000684688.1:n.1145T>G
ENST00000204679.9:c.520T>G MANE Select	ENSP00000204679.4:p.Leu174Val
ENST00000204679.8:c.520T>G	ENSP00000204679.4:p.Leu174Val
ENST00000527076.1:n.1536T>G
ENST00000527168.5:n.556T>G
ENST00000529957.5:n.619T>G
NM_032520.4:c.520T>G	NP_115909.1:p.Leu174Val
XM_017023782.1:c.568T>G	XP_016879271.1:p.Leu190Val
XM_017023783.1:c.160T>G	XP_016879272.1:p.Leu54Val
NM_032520.5:c.520T>G MANE Select	NP_115909.1:p.Leu174Val