Canonical Allele Identifier: CA394188404

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412624T>A (hg19) ; chr16:g.1362623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362623T>A , CM000678.2:g.1362623T>A	GRCh38
NC_000016.9:g.1412624T>A , CM000678.1:g.1412624T>A	GRCh37
NC_000016.8:g.1352625T>A	NCBI36
NG_016985.1:g.15725T>A
NG_033129.1:g.57082A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.721T>A
ENST00000529110.2:c.706T>A	ENSP00000435349.2:p.Leu236Met
ENST00000529957.6:n.680T>A
ENST00000683366.1:c.*354T>A	ENSP00000507283.1:n.*354T>A
ENST00000683887.1:c.670T>A	ENSP00000506886.1:p.Leu224Met
ENST00000684100.1:n.616T>A
ENST00000684126.1:n.756T>A
ENST00000684688.1:n.1247T>A
ENST00000204679.9:c.622T>A MANE Select	ENSP00000204679.4:p.Leu208Met
ENST00000204679.8:c.622T>A	ENSP00000204679.4:p.Leu208Met
ENST00000527076.1:n.1845T>A
ENST00000527168.5:n.789T>A
ENST00000529957.5:n.721T>A
NM_032520.4:c.622T>A	NP_115909.1:p.Leu208Met
XM_017023782.1:c.670T>A	XP_016879271.1:p.Leu224Met
XM_017023783.1:c.262T>A	XP_016879272.1:p.Leu88Met
NM_032520.5:c.622T>A MANE Select	NP_115909.1:p.Leu208Met