Canonical Allele Identifier: CA394188411

Gene: GNPTG

Linked Data

• dbSNP Id: rs1277141503
• gnomAD v2: 16-1412627-C-G
• gnomAD v3: 16-1362626-C-G
• gnomAD v4: 16-1362626-C-G
• MyVariant Identifiers: chr16:g.1412627C>G (hg19) ; chr16:g.1362626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362626C>G , CM000678.2:g.1362626C>G	GRCh38
NC_000016.9:g.1412627C>G , CM000678.1:g.1412627C>G	GRCh37
NC_000016.8:g.1352628C>G	NCBI36
NG_016985.1:g.15728C>G
NG_033129.1:g.57079G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.724C>G
ENST00000529110.2:c.709C>G	ENSP00000435349.2:p.Leu237Val
ENST00000529957.6:n.683C>G
ENST00000683366.1:c.*357C>G	ENSP00000507283.1:n.*357C>G
ENST00000683887.1:c.673C>G	ENSP00000506886.1:p.Leu225Val
ENST00000684100.1:n.619C>G
ENST00000684126.1:n.759C>G
ENST00000684688.1:n.1250C>G
ENST00000204679.9:c.625C>G MANE Select	ENSP00000204679.4:p.Leu209Val
ENST00000204679.8:c.625C>G	ENSP00000204679.4:p.Leu209Val
ENST00000527076.1:n.1848C>G
ENST00000527168.5:n.792C>G
ENST00000529957.5:n.724C>G
NM_032520.4:c.625C>G	NP_115909.1:p.Leu209Val
XM_017023782.1:c.673C>G	XP_016879271.1:p.Leu225Val
XM_017023783.1:c.265C>G	XP_016879272.1:p.Leu89Val
NM_032520.5:c.625C>G MANE Select	NP_115909.1:p.Leu209Val