Canonical Allele Identifier: CA394186794

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361885-T-C
• MyVariant Identifiers: chr16:g.1411886T>C (hg19) ; chr16:g.1361885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361885T>C , CM000678.2:g.1361885T>C	GRCh38
NC_000016.9:g.1411886T>C , CM000678.1:g.1411886T>C	GRCh37
NC_000016.8:g.1351887T>C	NCBI36
NG_016985.1:g.14987T>C
NG_033129.1:g.57820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.346T>C
ENST00000529110.2:c.331T>C	ENSP00000435349.2:p.Phe111Leu
ENST00000529957.6:n.305T>C
ENST00000683366.1:c.192T>C	ENSP00000507283.1:p.Ser64=
ENST00000683887.1:c.295T>C	ENSP00000506886.1:p.Phe99Leu
ENST00000684100.1:n.241T>C
ENST00000684126.1:n.305T>C
ENST00000684688.1:n.872T>C
ENST00000204679.9:c.247T>C MANE Select	ENSP00000204679.4:p.Phe83Leu
ENST00000204679.8:c.247T>C	ENSP00000204679.4:p.Phe83Leu
ENST00000526820.5:c.*149T>C	ENSP00000434413.1:n.*149T>C
ENST00000527076.1:n.1263T>C
ENST00000527168.5:n.283T>C
ENST00000529110.1:c.314T>C
ENST00000529957.5:n.346T>C
NM_032520.4:c.247T>C	NP_115909.1:p.Phe83Leu
XM_017023782.1:c.295T>C	XP_016879271.1:p.Phe99Leu
XM_017023783.1:c.-114T>C	XP_016879272.1:n.-114T>C
NM_032520.5:c.247T>C MANE Select	NP_115909.1:p.Phe83Leu