Canonical Allele Identifier: CA1363294764
Gene: QRICH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49033066C>G , CM000665.2:g.49033066C>G GRCh38
NC_000003.11:g.49070499C>G , CM000665.1:g.49070499C>G GRCh37
NC_000003.10:g.49045503C>G NCBI36
NG_012091.1:g.1377G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411682.2:c.1895+54G>C ENSP00000412870.2:n.1895+54G>C
ENST00000703871.1:c.1895+54G>C ENSP00000515516.1:n.1895+54G>C
ENST00000703872.1:c.*727+54G>C ENSP00000515517.1:n.*727+54G>C
ENST00000703873.1:c.866+54G>C ENSP00000515518.1:n.866+54G>C
ENST00000703936.1:c.1895+54G>C ENSP00000515567.1:n.1895+54G>C
ENST00000703937.1:c.1142+54G>C ENSP00000515568.1:n.1142+54G>C
ENST00000703938.1:c.*50G>C ENSP00000515569.1:n.*50G>C
ENST00000703939.1:c.*376G>C ENSP00000515570.1:n.*376G>C
ENST00000703940.1:c.*227G>C ENSP00000515571.1:n.*227G>C
ENST00000703941.1:c.*264G>C ENSP00000515572.1:n.*264G>C
ENST00000703942.1:c.1895+54G>C ENSP00000515573.1:n.1895+54G>C
ENST00000703943.1:c.*588+54G>C ENSP00000515574.1:n.*588+54G>C
ENST00000395443.7:c.1895+54G>C MANE Select ENSP00000378830.2:n.1895+54G>C
ENST00000357496.6:c.1895+54G>C ENSP00000350094.2:n.1895+54G>C
ENST00000395443.6:c.1895+54G>C ENSP00000378830.2:n.1895+54G>C
ENST00000424300.5:c.1895+54G>C ENSP00000412890.1:n.1895+54G>C
ENST00000469910.1:n.49+54G>C
ENST00000477021.1:n.136G>C
ENST00000489642.5:n.216G>C
ENST00000498392.1:n.765G>C
ENST00000498440.5:n.312G>C
NM_017730.2:c.1895+54G>C NP_060200.2:n.1895+54G>C
NM_198880.1:c.1895+54G>C NP_942581.1:n.1895+54G>C
XM_005265248.3:c.1895+54G>C XP_005265305.1:n.1895+54G>C
XM_006713212.2:c.1895+54G>C XP_006713275.1:n.1895+54G>C
XM_011533862.1:c.1895+54G>C XP_011532164.1:n.1895+54G>C
XM_011533863.1:c.1895+54G>C XP_011532165.1:n.1895+54G>C
NM_001320580.1:c.1895+54G>C NP_001307509.1:n.1895+54G>C
NM_001320581.1:c.1895+54G>C NP_001307510.1:n.1895+54G>C
NM_001320582.1:c.1895+54G>C NP_001307511.1:n.1895+54G>C
NM_001320583.1:c.1895+54G>C NP_001307512.1:n.1895+54G>C
NM_001320584.1:c.1895+54G>C NP_001307513.1:n.1895+54G>C
NM_001320585.1:c.1895+54G>C NP_001307514.1:n.1895+54G>C
NM_017730.3:c.1895+54G>C NP_060200.2:n.1895+54G>C
NM_198880.2:c.1895+54G>C NP_942581.1:n.1895+54G>C
NM_198880.3:c.1895+54G>C MANE Select NP_942581.1:n.1895+54G>C
NM_001320580.2:c.1895+54G>C NP_001307509.1:n.1895+54G>C
NM_001320581.2:c.1895+54G>C NP_001307510.1:n.1895+54G>C
NM_001320582.2:c.1895+54G>C NP_001307511.1:n.1895+54G>C
NM_001320583.2:c.1895+54G>C NP_001307512.1:n.1895+54G>C
NM_017730.4:c.1895+54G>C NP_060200.2:n.1895+54G>C