Canonical Allele Identifier: CA394188402

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362622-G-C
• MyVariant Identifiers: chr16:g.1412623G>C (hg19) ; chr16:g.1362622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362622G>C , CM000678.2:g.1362622G>C	GRCh38
NC_000016.9:g.1412623G>C , CM000678.1:g.1412623G>C	GRCh37
NC_000016.8:g.1352624G>C	NCBI36
NG_016985.1:g.15724G>C
NG_033129.1:g.57083C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.720G>C
ENST00000529110.2:c.705G>C	ENSP00000435349.2:p.Lys235Asn
ENST00000529957.6:n.679G>C
ENST00000683366.1:c.*353G>C	ENSP00000507283.1:n.*353G>C
ENST00000683887.1:c.669G>C	ENSP00000506886.1:p.Lys223Asn
ENST00000684100.1:n.615G>C
ENST00000684126.1:n.755G>C
ENST00000684688.1:n.1246G>C
ENST00000204679.9:c.621G>C MANE Select	ENSP00000204679.4:p.Lys207Asn
ENST00000204679.8:c.621G>C	ENSP00000204679.4:p.Lys207Asn
ENST00000527076.1:n.1844G>C
ENST00000527168.5:n.788G>C
ENST00000529957.5:n.720G>C
NM_032520.4:c.621G>C	NP_115909.1:p.Lys207Asn
XM_017023782.1:c.669G>C	XP_016879271.1:p.Lys223Asn
XM_017023783.1:c.261G>C	XP_016879272.1:p.Lys87Asn
NM_032520.5:c.621G>C MANE Select	NP_115909.1:p.Lys207Asn