Canonical Allele Identifier: CA2338111124
Gene: CBLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793584C= , CM000681.2:g.44793584C= GRCh38
NC_000019.9:g.45296841C= , CM000681.1:g.45296841C= GRCh37
NC_000019.8:g.49988681C= NCBI36
NG_054718.1:g.20730C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1248C= MANE Select ENSP00000494162.1:p.Ser416=
ENST00000270279.7:c.1248C= ENSP00000270279.3:p.Ser416=
ENST00000341505.4:c.1110C= ENSP00000340250.4:p.Ser370=
NM_001130852.1:c.1110C= NP_001124324.1:p.Ser370=
NM_012116.3:c.1248C= NP_036248.3:p.Ser416=
XM_005258696.2:c.1248C= XP_005258753.1:p.Ser416=
XM_011526688.1:c.1248C= XP_011524990.1:p.Ser416=
XM_011526689.1:c.1110C= XP_011524991.1:p.Ser370=
XR_935783.1:n.1195C=
NM_012116.4:c.1248C= MANE Select NP_036248.3:p.Ser416=
XM_005258696.3:c.1248C= XP_005258753.1:p.Ser416=
XM_011526688.2:c.1248C= XP_011524990.1:p.Ser416=
XM_011526689.2:c.1110C= XP_011524991.1:p.Ser370=
XR_935783.2:n.1200C=