Canonical Allele Identifier: CA394187719

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362237-T-C
• MyVariant Identifiers: chr16:g.1412238T>C (hg19) ; chr16:g.1362237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362237T>C , CM000678.2:g.1362237T>C	GRCh38
NC_000016.9:g.1412238T>C , CM000678.1:g.1412238T>C	GRCh37
NC_000016.8:g.1352239T>C	NCBI36
NG_016985.1:g.15339T>C
NG_033129.1:g.57468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.542T>C
ENST00000529110.2:c.527T>C	ENSP00000435349.2:p.Leu176Pro
ENST00000529957.6:n.501T>C
ENST00000683366.1:c.*175T>C	ENSP00000507283.1:n.*175T>C
ENST00000683887.1:c.491T>C	ENSP00000506886.1:p.Leu164Pro
ENST00000684100.1:n.437T>C
ENST00000684126.1:n.501T>C
ENST00000684688.1:n.1068T>C
ENST00000204679.9:c.443T>C MANE Select	ENSP00000204679.4:p.Leu148Pro
ENST00000204679.8:c.443T>C	ENSP00000204679.4:p.Leu148Pro
ENST00000527076.1:n.1459T>C
ENST00000527168.5:n.479T>C
ENST00000529110.1:c.510T>C
ENST00000529957.5:n.542T>C
NM_032520.4:c.443T>C	NP_115909.1:p.Leu148Pro
XM_017023782.1:c.491T>C	XP_016879271.1:p.Leu164Pro
XM_017023783.1:c.83T>C	XP_016879272.1:p.Leu28Pro
NM_032520.5:c.443T>C MANE Select	NP_115909.1:p.Leu148Pro