Canonical Allele Identifier: CA401144236

Gene: QRICH2

Linked Data

• gnomAD v4: 17-76287828-C-T
• MyVariant Identifiers: chr17:g.74283909C>T (hg19) ; chr17:g.76287828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287828C>T , CM000679.2:g.76287828C>T	GRCh38
NC_000017.10:g.74283909C>T , CM000679.1:g.74283909C>T	GRCh37
NC_000017.9:g.71795504C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680821.2:c.3868G>A MANE Select	ENSP00000504874.1:p.Glu1290Lys
ENST00000262765.10:c.3370G>A	ENSP00000262765.5:p.Glu1124Lys
ENST00000636395.1:c.3868G>A	ENSP00000490761.1:p.Glu1290Lys
ENST00000680821.1:c.3868G>A	ENSP00000504874.1:p.Glu1290Lys
ENST00000262765.9:c.3370G>A	ENSP00000262765.5:p.Glu1124Lys
ENST00000447564.2:c.394G>A	ENSP00000394461.2:p.Glu132Lys
ENST00000524722.1:c.*134G>A	ENSP00000432679.1:n.*134G>A
NM_032134.2:c.3370G>A	NP_115510.1:p.Glu1124Lys
NR_130649.1:n.641G>A
XM_005257728.2:c.3868G>A	XP_005257785.1:p.Glu1290Lys
XM_006722136.2:c.130G>A	XP_006722199.1:p.Glu44Lys
XM_011525344.1:c.3148G>A	XP_011523646.1:p.Glu1050Lys
XM_005257728.4:c.3868G>A	XP_005257785.1:p.Glu1290Lys
XM_006722136.3:c.130G>A	XP_006722199.1:p.Glu44Lys
XM_011525344.2:c.3148G>A	XP_011523646.1:p.Glu1050Lys
XM_017025206.2:c.3868G>A	XP_016880695.1:p.Glu1290Lys
XM_017025207.2:c.3808G>A	XP_016880696.1:p.Glu1270Lys
XM_017025208.1:c.-99G>A	XP_016880697.1:n.-99G>A
NM_001388453.1:c.3868G>A MANE Select	NP_001375382.1:p.Glu1290Lys
NM_032134.3:c.3868G>A	NP_115510.2:p.Glu1290Lys
NR_130649.2:n.1237G>A