Canonical Allele Identifier: CA7807555

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1576431
• ClinVar RCV Id: RCV002085384
• dbSNP Id: rs375115440
• ExAC: 16:1411857 C / T
• gnomAD v2: 16-1411857-C-T
• gnomAD v3: 16-1361856-C-T
• gnomAD v4: 16-1361856-C-T
• MyVariant Identifiers: chr16:g.1411857C>T (hg19) ; chr16:g.1361856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361856C>T , CM000678.2:g.1361856C>T	GRCh38
NC_000016.9:g.1411857C>T , CM000678.1:g.1411857C>T	GRCh37
NC_000016.8:g.1351858C>T	NCBI36
NG_016985.1:g.14958C>T
NG_033129.1:g.57849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-16C>T
ENST00000529110.2:c.318-16C>T	ENSP00000435349.2:n.318-16C>T
ENST00000529957.6:n.292-16C>T
ENST00000683366.1:c.179-16C>T	ENSP00000507283.1:n.179-16C>T
ENST00000683887.1:c.282-16C>T	ENSP00000506886.1:n.282-16C>T
ENST00000684100.1:n.212C>T
ENST00000684126.1:n.292-16C>T
ENST00000684688.1:n.859-16C>T
ENST00000204679.9:c.234-16C>T MANE Select	ENSP00000204679.4:n.234-16C>T
ENST00000204679.8:c.234-16C>T	ENSP00000204679.4:n.234-16C>T
ENST00000526820.5:c.*136-16C>T	ENSP00000434413.1:n.*136-16C>T
ENST00000527076.1:n.1234C>T
ENST00000527168.5:n.270-16C>T
ENST00000529110.1:c.301-16C>T
ENST00000529957.5:n.333-16C>T
NM_032520.4:c.234-16C>T	NP_115909.1:n.234-16C>T
XM_017023782.1:c.282-16C>T	XP_016879271.1:n.282-16C>T
XM_017023783.1:c.-127-16C>T	XP_016879272.1:n.-127-16C>T
NM_032520.5:c.234-16C>T MANE Select	NP_115909.1:n.234-16C>T