Canonical Allele Identifier: CA394188413

Gene: GNPTG

Linked Data

• dbSNP Id: rs1479673323
• gnomAD v2: 16-1412628-T-C
• gnomAD v4: 16-1362627-T-C
• MyVariant Identifiers: chr16:g.1412628T>C (hg19) ; chr16:g.1362627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362627T>C , CM000678.2:g.1362627T>C	GRCh38
NC_000016.9:g.1412628T>C , CM000678.1:g.1412628T>C	GRCh37
NC_000016.8:g.1352629T>C	NCBI36
NG_016985.1:g.15729T>C
NG_033129.1:g.57078A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.725T>C
ENST00000529110.2:c.710T>C	ENSP00000435349.2:p.Leu237Pro
ENST00000529957.6:n.684T>C
ENST00000683366.1:c.*358T>C	ENSP00000507283.1:n.*358T>C
ENST00000683887.1:c.674T>C	ENSP00000506886.1:p.Leu225Pro
ENST00000684100.1:n.620T>C
ENST00000684126.1:n.760T>C
ENST00000684688.1:n.1251T>C
ENST00000204679.9:c.626T>C MANE Select	ENSP00000204679.4:p.Leu209Pro
ENST00000204679.8:c.626T>C	ENSP00000204679.4:p.Leu209Pro
ENST00000527076.1:n.1849T>C
ENST00000527168.5:n.793T>C
ENST00000529957.5:n.725T>C
NM_032520.4:c.626T>C	NP_115909.1:p.Leu209Pro
XM_017023782.1:c.674T>C	XP_016879271.1:p.Leu225Pro
XM_017023783.1:c.266T>C	XP_016879272.1:p.Leu89Pro
NM_032520.5:c.626T>C MANE Select	NP_115909.1:p.Leu209Pro