Canonical Allele Identifier: CA7807636

Gene: GNPTG

Linked Data

• dbSNP Id: rs776376435
• ExAC: 16:1412042 C / G
• gnomAD v2: 16-1412042-C-G
• gnomAD v4: 16-1362041-C-G
• MyVariant Identifiers: chr16:g.1412042C>G (hg19) ; chr16:g.1362041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362041C>G , CM000678.2:g.1362041C>G	GRCh38
NC_000016.9:g.1412042C>G , CM000678.1:g.1412042C>G	GRCh37
NC_000016.8:g.1352043C>G	NCBI36
NG_016985.1:g.15143C>G
NG_033129.1:g.57664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.420C>G
ENST00000529110.2:c.405C>G	ENSP00000435349.2:p.Ile135Met
ENST00000529957.6:n.379C>G
ENST00000683366.1:c.*53C>G	ENSP00000507283.1:n.*53C>G
ENST00000683887.1:c.369C>G	ENSP00000506886.1:p.Ile123Met
ENST00000684100.1:n.315C>G
ENST00000684126.1:n.379C>G
ENST00000684688.1:n.946C>G
ENST00000204679.9:c.321C>G MANE Select	ENSP00000204679.4:p.Ile107Met
ENST00000204679.8:c.321C>G	ENSP00000204679.4:p.Ile107Met
ENST00000526820.5:c.*223C>G	ENSP00000434413.1:n.*223C>G
ENST00000527076.1:n.1337C>G
ENST00000527168.5:n.357C>G
ENST00000529110.1:c.388C>G
ENST00000529957.5:n.420C>G
NM_032520.4:c.321C>G	NP_115909.1:p.Ile107Met
XM_017023782.1:c.369C>G	XP_016879271.1:p.Ile123Met
XM_017023783.1:c.-40C>G	XP_016879272.1:n.-40C>G
NM_032520.5:c.321C>G MANE Select	NP_115909.1:p.Ile107Met