Canonical Allele Identifier: CA15254953
Gene: BOC HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.113276227A>C , CM000665.2:g.113276227A>C GRCh38
NC_000003.11:g.112995074A>C , CM000665.1:g.112995074A>C GRCh37
NC_000003.10:g.114477764A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682979.1:c.1542+1545A>C MANE Select ENSP00000507783.1:n.1542+1545A>C
ENST00000273395.8:c.1542+1545A>C ENSP00000273395.4:n.1542+1545A>C
ENST00000355385.7:c.1542+1545A>C ENSP00000347546.3:n.1542+1545A>C
ENST00000466059.5:n.3903+1545A>C
ENST00000479182.5:n.2273+1545A>C
ENST00000495514.5:c.1542+1545A>C ENSP00000418663.1:n.1542+1545A>C
ENST00000497495.1:n.213+1545A>C
NM_001301861.1:c.1542+1545A>C NP_001288790.1:n.1542+1545A>C
NM_033254.3:c.1542+1545A>C NP_150279.1:n.1542+1545A>C
XM_005247891.1:c.1542+1545A>C XP_005247948.1:n.1542+1545A>C
XM_005247892.1:c.1542+1545A>C XP_005247949.1:n.1542+1545A>C
XM_005247894.1:c.1542+1545A>C XP_005247951.1:n.1542+1545A>C
XM_005247897.1:c.1269+1545A>C XP_005247954.1:n.1269+1545A>C
XM_005247898.1:c.1005+1545A>C XP_005247955.1:n.1005+1545A>C
XM_011513300.1:c.1542+1545A>C XP_011511602.1:n.1542+1545A>C
XM_011513301.1:c.1542+1545A>C XP_011511603.1:n.1542+1545A>C
XM_011513302.1:c.1542+1545A>C XP_011511604.1:n.1542+1545A>C
XM_011513303.1:c.1542+1545A>C XP_011511605.1:n.1542+1545A>C
XM_011513304.1:c.1542+1545A>C XP_011511606.1:n.1542+1545A>C
XM_011513305.1:c.1542+1545A>C XP_011511607.1:n.1542+1545A>C
XM_011513306.1:c.1443+1545A>C XP_011511608.1:n.1443+1545A>C
XM_011513307.1:c.1233+1545A>C XP_011511609.1:n.1233+1545A>C
XM_011513308.1:c.1233+1545A>C XP_011511610.1:n.1233+1545A>C
XM_011513309.1:c.1233+1545A>C XP_011511611.1:n.1233+1545A>C
XM_005247891.3:c.1542+1545A>C XP_005247948.1:n.1542+1545A>C
XM_005247892.3:c.1542+1545A>C XP_005247949.1:n.1542+1545A>C
XM_005247897.3:c.1269+1545A>C XP_005247954.1:n.1269+1545A>C
XM_011513305.3:c.1542+1545A>C XP_011511607.1:n.1542+1545A>C
XM_017007441.2:c.1551+1545A>C XP_016862930.1:n.1551+1545A>C
XM_017007442.2:c.1551+1545A>C XP_016862931.1:n.1551+1545A>C
XM_017007443.1:c.1551+1545A>C XP_016862932.1:n.1551+1545A>C
XM_017007444.1:c.1551+1545A>C XP_016862933.1:n.1551+1545A>C
XM_017007445.1:c.1551+1545A>C XP_016862934.1:n.1551+1545A>C
XM_017007446.1:c.1551+1545A>C XP_016862935.1:n.1551+1545A>C
XM_017007447.1:c.1551+1545A>C XP_016862936.1:n.1551+1545A>C
XM_017007448.1:c.1551+1545A>C XP_016862937.1:n.1551+1545A>C
XM_017007449.1:c.1551+1545A>C XP_016862938.1:n.1551+1545A>C
XM_017007450.2:c.1551+1545A>C XP_016862939.1:n.1551+1545A>C
XM_017007451.2:c.1542+1545A>C XP_016862940.1:n.1542+1545A>C
XM_017007452.1:c.1242+1545A>C XP_016862941.1:n.1242+1545A>C
XM_017007453.1:c.1242+1545A>C XP_016862942.1:n.1242+1545A>C
XM_017007454.2:c.1014+1545A>C XP_016862943.1:n.1014+1545A>C
XM_024453818.1:c.1551+1545A>C XP_024309586.1:n.1551+1545A>C
XM_024453819.1:c.1014+1545A>C XP_024309587.1:n.1014+1545A>C
XR_001740359.2:n.2209+1545A>C
NM_001301861.2:c.1542+1545A>C NP_001288790.1:n.1542+1545A>C
NM_033254.4:c.1542+1545A>C NP_150279.1:n.1542+1545A>C
NM_001378073.1:c.1542+1545A>C NP_001365002.1:n.1542+1545A>C
NM_001378074.1:c.1542+1545A>C MANE Select NP_001365003.1:n.1542+1545A>C
NM_001378075.1:c.1542+1545A>C NP_001365004.1:n.1542+1545A>C
NM_001387919.1:c.1542+1545A>C NP_001374848.1:n.1542+1545A>C
NM_001387920.1:c.1542+1545A>C NP_001374849.1:n.1542+1545A>C
NM_001387921.1:c.1542+1545A>C NP_001374850.1:n.1542+1545A>C
NM_001387924.1:c.1269+1545A>C NP_001374853.1:n.1269+1545A>C
NM_001387925.1:c.1542+1545A>C NP_001374854.1:n.1542+1545A>C
NM_001387926.1:c.1542+1545A>C NP_001374855.1:n.1542+1545A>C
NM_001387927.1:c.1542+1545A>C NP_001374856.1:n.1542+1545A>C
NM_001387928.1:c.1542+1545A>C NP_001374857.1:n.1542+1545A>C
NR_170866.1:n.2121+1545A>C
Search 100 bp 5'
Search 100 bp 3'