Canonical Allele Identifier: CA1172053994

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833230A= , CM000663.2:g.64833230A= GRCh38
NC_000001.10:g.65298913A= , CM000663.1:g.65298913A= GRCh37
NC_000001.9:g.65071501A= NCBI36
NG_023402.1:g.138275T=
NG_023402.2:g.239517T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*2245A= (RAVER2) MANE Select ENSP00000294428.3:n.*2245A=
ENST00000465376.7:n.3137T= (JAK1)
ENST00000342505.5:c.*1332T= (JAK1) MANE Select ENSP00000343204.4:n.*1332T=
ENST00000342505.4:c.*1332T= (JAK1) ENSP00000343204.4:n.*1332T=
ENST00000371072.8:c.*2245A= (RAVER2) ENSP00000360112.4:n.*2245A=
NM_002227.2:c.*1332T= (JAK1) NP_002218.2:n.*1332T=
NM_018211.3:c.*2245A= (RAVER2) NP_060681.2:n.*2245A=
XM_005270841.1:c.*1332T= (JAK1) XP_005270898.1:n.*1332T=
XM_006710624.1:c.*1332T= (JAK1) XP_006710687.1:n.*1332T=
XM_006710738.2:c.*2245A= (RAVER2) XP_006710801.2:n.*2245A=
XM_011541395.1:c.*1332T= (JAK1) XP_011539697.1:n.*1332T=
NM_001320923.1:c.*1332T= (JAK1) NP_001307852.1:n.*1332T=
NM_001321852.1:c.*1332T= (JAK1) NP_001308781.1:n.*1332T=
NM_001321853.1:c.*1332T= (JAK1) NP_001308782.1:n.*1332T=
NM_001321854.1:c.*1332T= (JAK1) NP_001308783.1:n.*1332T=
NM_001321855.1:c.*1332T= (JAK1) NP_001308784.1:n.*1332T=
NM_001321856.1:c.*1332T= (JAK1) NP_001308785.1:n.*1332T=
NM_001321857.1:c.*1332T= (JAK1) NP_001308786.1:n.*1332T=
NM_001366165.1:c.*2245A= (RAVER2) NP_001353094.1:n.*2245A=
NM_002227.3:c.*1332T= (JAK1) NP_002218.2:n.*1332T=
XR_946693.3:n.4664A= (RAVER2)
NM_002227.4:c.*1332T= (JAK1) MANE Select NP_002218.2:n.*1332T=
NM_001321852.2:c.*1332T= (JAK1) NP_001308781.1:n.*1332T=
NM_001321853.2:c.*1332T= (JAK1) NP_001308782.1:n.*1332T=
NM_001321854.2:c.*1332T= (JAK1) NP_001308783.1:n.*1332T=
NM_001321855.2:c.*1332T= (JAK1) NP_001308784.1:n.*1332T=
NM_001321857.2:c.*1332T= (JAK1) NP_001308786.1:n.*1332T=
NM_018211.4:c.*2245A= (RAVER2) NP_060681.2:n.*2245A=
NM_001320923.2:c.*1332T= (JAK1) NP_001307852.1:n.*1332T=
NM_001321856.2:c.*1332T= (JAK1) NP_001308785.1:n.*1332T=
NM_001366165.2:c.*2245A= (RAVER2) MANE Select NP_001353094.1:n.*2245A=