Canonical Allele Identifier: CA394188430

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362636-T-C
• MyVariant Identifiers: chr16:g.1412637T>C (hg19) ; chr16:g.1362636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362636T>C , CM000678.2:g.1362636T>C	GRCh38
NC_000016.9:g.1412637T>C , CM000678.1:g.1412637T>C	GRCh37
NC_000016.8:g.1352638T>C	NCBI36
NG_016985.1:g.15738T>C
NG_033129.1:g.57069A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.734T>C
ENST00000529110.2:c.719T>C	ENSP00000435349.2:p.Leu240Pro
ENST00000529957.6:n.693T>C
ENST00000683366.1:c.*367T>C	ENSP00000507283.1:n.*367T>C
ENST00000683887.1:c.683T>C	ENSP00000506886.1:p.Leu228Pro
ENST00000684100.1:n.629T>C
ENST00000684126.1:n.769T>C
ENST00000684688.1:n.1260T>C
ENST00000204679.9:c.635T>C MANE Select	ENSP00000204679.4:p.Leu212Pro
ENST00000204679.8:c.635T>C	ENSP00000204679.4:p.Leu212Pro
ENST00000527076.1:n.1858T>C
ENST00000527168.5:n.802T>C
ENST00000529957.5:n.734T>C
NM_032520.4:c.635T>C	NP_115909.1:p.Leu212Pro
XM_017023782.1:c.683T>C	XP_016879271.1:p.Leu228Pro
XM_017023783.1:c.275T>C	XP_016879272.1:p.Leu92Pro
NM_032520.5:c.635T>C MANE Select	NP_115909.1:p.Leu212Pro