Canonical Allele Identifier: CA2338111207
Gene: CBLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793728C= , CM000681.2:g.44793728C= GRCh38
NC_000019.9:g.45296985C= , CM000681.1:g.45296985C= GRCh37
NC_000019.8:g.49988825C= NCBI36
NG_054718.1:g.20874C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1284+108C= MANE Select ENSP00000494162.1:n.1284+108C=
ENST00000270279.7:c.1284+108C= ENSP00000270279.3:n.1284+108C=
ENST00000341505.4:c.1146+108C= ENSP00000340250.4:n.1146+108C=
NM_001130852.1:c.1146+108C= NP_001124324.1:n.1146+108C=
NM_012116.3:c.1284+108C= NP_036248.3:n.1284+108C=
XM_005258696.2:c.1284+108C= XP_005258753.1:n.1284+108C=
XM_011526688.1:c.1284+108C= XP_011524990.1:n.1284+108C=
XM_011526689.1:c.1146+108C= XP_011524991.1:n.1146+108C=
XR_935783.1:n.1231+108C=
NM_012116.4:c.1284+108C= MANE Select NP_036248.3:n.1284+108C=
XM_005258696.3:c.1284+108C= XP_005258753.1:n.1284+108C=
XM_011526688.2:c.1284+108C= XP_011524990.1:n.1284+108C=
XM_011526689.2:c.1146+108C= XP_011524991.1:n.1146+108C=
XR_935783.2:n.1236+108C=