Canonical Allele Identifier: CA2338111103
Gene: CBLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793539C= , CM000681.2:g.44793539C= GRCh38
NC_000019.9:g.45296796C= , CM000681.1:g.45296796C= GRCh37
NC_000019.8:g.49988636C= NCBI36
NG_054718.1:g.20685C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1203C= MANE Select ENSP00000494162.1:p.Ile401=
ENST00000270279.7:c.1203C= ENSP00000270279.3:p.Ile401=
ENST00000341505.4:c.1065C= ENSP00000340250.4:p.Ile355=
NM_001130852.1:c.1065C= NP_001124324.1:p.Ile355=
NM_012116.3:c.1203C= NP_036248.3:p.Ile401=
XM_005258696.2:c.1203C= XP_005258753.1:p.Ile401=
XM_011526688.1:c.1203C= XP_011524990.1:p.Ile401=
XM_011526689.1:c.1065C= XP_011524991.1:p.Ile355=
XR_935783.1:n.1150C=
NM_012116.4:c.1203C= MANE Select NP_036248.3:p.Ile401=
XM_005258696.3:c.1203C= XP_005258753.1:p.Ile401=
XM_011526688.2:c.1203C= XP_011524990.1:p.Ile401=
XM_011526689.2:c.1065C= XP_011524991.1:p.Ile355=
XR_935783.2:n.1155C=