Canonical Allele Identifier: CA406307592
Gene: CBLC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793601G>T , CM000681.2:g.44793601G>T GRCh38
NC_000019.9:g.45296858G>T , CM000681.1:g.45296858G>T GRCh37
NC_000019.8:g.49988698G>T NCBI36
NG_054718.1:g.20747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1265G>T MANE Select ENSP00000494162.1:p.Arg422Met
ENST00000270279.7:c.1265G>T ENSP00000270279.3:p.Arg422Met
ENST00000341505.4:c.1127G>T ENSP00000340250.4:p.Arg376Met
NM_001130852.1:c.1127G>T NP_001124324.1:p.Arg376Met
NM_012116.3:c.1265G>T NP_036248.3:p.Arg422Met
XM_005258696.2:c.1265G>T XP_005258753.1:p.Arg422Met
XM_011526688.1:c.1265G>T XP_011524990.1:p.Arg422Met
XM_011526689.1:c.1127G>T XP_011524991.1:p.Arg376Met
XR_935783.1:n.1212G>T
NM_012116.4:c.1265G>T MANE Select NP_036248.3:p.Arg422Met
XM_005258696.3:c.1265G>T XP_005258753.1:p.Arg422Met
XM_011526688.2:c.1265G>T XP_011524990.1:p.Arg422Met
XM_011526689.2:c.1127G>T XP_011524991.1:p.Arg376Met
XR_935783.2:n.1217G>T