Canonical Allele Identifier: CA9504131
Gene: CBLC HGNC NCBI

Linked Data

dbSNP Id: rs199840214

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793670G>C , CM000681.2:g.44793670G>C GRCh38
NC_000019.9:g.45296927G>C , CM000681.1:g.45296927G>C GRCh37
NC_000019.8:g.49988767G>C NCBI36
NG_054718.1:g.20816G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1284+50G>C MANE Select ENSP00000494162.1:n.1284+50G>C
ENST00000270279.7:c.1284+50G>C ENSP00000270279.3:n.1284+50G>C
ENST00000341505.4:c.1146+50G>C ENSP00000340250.4:n.1146+50G>C
NM_001130852.1:c.1146+50G>C NP_001124324.1:n.1146+50G>C
NM_012116.3:c.1284+50G>C NP_036248.3:n.1284+50G>C
XM_005258696.2:c.1284+50G>C XP_005258753.1:n.1284+50G>C
XM_011526688.1:c.1284+50G>C XP_011524990.1:n.1284+50G>C
XM_011526689.1:c.1146+50G>C XP_011524991.1:n.1146+50G>C
XR_935783.1:n.1231+50G>C
NM_012116.4:c.1284+50G>C MANE Select NP_036248.3:n.1284+50G>C
XM_005258696.3:c.1284+50G>C XP_005258753.1:n.1284+50G>C
XM_011526688.2:c.1284+50G>C XP_011524990.1:n.1284+50G>C
XM_011526689.2:c.1146+50G>C XP_011524991.1:n.1146+50G>C
XR_935783.2:n.1236+50G>C