Canonical Allele Identifier: CA406307630
Gene: CBLC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793607T>G , CM000681.2:g.44793607T>G GRCh38
NC_000019.9:g.45296864T>G , CM000681.1:g.45296864T>G GRCh37
NC_000019.8:g.49988704T>G NCBI36
NG_054718.1:g.20753T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1271T>G MANE Select ENSP00000494162.1:p.Leu424Trp
ENST00000270279.7:c.1271T>G ENSP00000270279.3:p.Leu424Trp
ENST00000341505.4:c.1133T>G ENSP00000340250.4:p.Leu378Trp
NM_001130852.1:c.1133T>G NP_001124324.1:p.Leu378Trp
NM_012116.3:c.1271T>G NP_036248.3:p.Leu424Trp
XM_005258696.2:c.1271T>G XP_005258753.1:p.Leu424Trp
XM_011526688.1:c.1271T>G XP_011524990.1:p.Leu424Trp
XM_011526689.1:c.1133T>G XP_011524991.1:p.Leu378Trp
XR_935783.1:n.1218T>G
NM_012116.4:c.1271T>G MANE Select NP_036248.3:p.Leu424Trp
XM_005258696.3:c.1271T>G XP_005258753.1:p.Leu424Trp
XM_011526688.2:c.1271T>G XP_011524990.1:p.Leu424Trp
XM_011526689.2:c.1133T>G XP_011524991.1:p.Leu378Trp
XR_935783.2:n.1223T>G