Canonical Allele Identifier: CA401144191

Gene: QRICH2

Linked Data

• MyVariant Identifiers: chr17:g.74283888C>G (hg19) ; chr17:g.76287807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287807C>G , CM000679.2:g.76287807C>G	GRCh38
NC_000017.10:g.74283888C>G , CM000679.1:g.74283888C>G	GRCh37
NC_000017.9:g.71795483C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680821.2:c.3889G>C MANE Select	ENSP00000504874.1:p.Val1297Leu
ENST00000262765.10:c.3391G>C	ENSP00000262765.5:p.Val1131Leu
ENST00000636395.1:c.3889G>C	ENSP00000490761.1:p.Val1297Leu
ENST00000680821.1:c.3889G>C	ENSP00000504874.1:p.Val1297Leu
ENST00000262765.9:c.3391G>C	ENSP00000262765.5:p.Val1131Leu
ENST00000447564.2:c.415G>C	ENSP00000394461.2:p.Val139Leu
ENST00000524722.1:c.*155G>C	ENSP00000432679.1:n.*155G>C
NM_032134.2:c.3391G>C	NP_115510.1:p.Val1131Leu
NR_130649.1:n.662G>C
XM_005257728.2:c.3889G>C	XP_005257785.1:p.Val1297Leu
XM_006722136.2:c.151G>C	XP_006722199.1:p.Val51Leu
XM_011525344.1:c.3169G>C	XP_011523646.1:p.Val1057Leu
XM_005257728.4:c.3889G>C	XP_005257785.1:p.Val1297Leu
XM_006722136.3:c.151G>C	XP_006722199.1:p.Val51Leu
XM_011525344.2:c.3169G>C	XP_011523646.1:p.Val1057Leu
XM_017025206.2:c.3889G>C	XP_016880695.1:p.Val1297Leu
XM_017025207.2:c.3829G>C	XP_016880696.1:p.Val1277Leu
XM_017025208.1:c.-78G>C	XP_016880697.1:n.-78G>C
NM_001388453.1:c.3889G>C MANE Select	NP_001375382.1:p.Val1297Leu
NM_032134.3:c.3889G>C	NP_115510.2:p.Val1297Leu
NR_130649.2:n.1258G>C