Canonical Allele Identifier: CA394186759

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361878-G-C
• MyVariant Identifiers: chr16:g.1411879G>C (hg19) ; chr16:g.1361878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361878G>C , CM000678.2:g.1361878G>C	GRCh38
NC_000016.9:g.1411879G>C , CM000678.1:g.1411879G>C	GRCh37
NC_000016.8:g.1351880G>C	NCBI36
NG_016985.1:g.14980G>C
NG_033129.1:g.57827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.339G>C
ENST00000529110.2:c.324G>C	ENSP00000435349.2:p.Lys108Asn
ENST00000529957.6:n.298G>C
ENST00000683366.1:c.185G>C	ENSP00000507283.1:p.Ser62Thr
ENST00000683887.1:c.288G>C	ENSP00000506886.1:p.Lys96Asn
ENST00000684100.1:n.234G>C
ENST00000684126.1:n.298G>C
ENST00000684688.1:n.865G>C
ENST00000204679.9:c.240G>C MANE Select	ENSP00000204679.4:p.Lys80Asn
ENST00000204679.8:c.240G>C	ENSP00000204679.4:p.Lys80Asn
ENST00000526820.5:c.*142G>C	ENSP00000434413.1:n.*142G>C
ENST00000527076.1:n.1256G>C
ENST00000527168.5:n.276G>C
ENST00000529110.1:c.307G>C
ENST00000529957.5:n.339G>C
NM_032520.4:c.240G>C	NP_115909.1:p.Lys80Asn
XM_017023782.1:c.288G>C	XP_016879271.1:p.Lys96Asn
XM_017023783.1:c.-121G>C	XP_016879272.1:n.-121G>C
NM_032520.5:c.240G>C MANE Select	NP_115909.1:p.Lys80Asn