Canonical Allele Identifier: CA6021665

Gene: CBLIF

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.59843998G>T , CM000673.2:g.59843998G>T	GRCh38
NC_000011.9:g.59611471G>T , CM000673.1:g.59611471G>T	GRCh37
NC_000011.8:g.59368047G>T	NCBI36
NG_008120.1:g.6504C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005142.3:c.137C>A MANE Select	NP_005133.2:p.Ser46Ter
ENST00000257248.3:c.137C>A MANE Select	ENSP00000257248.2:p.Ser46Ter
NM_005142.2:c.137C>A	NP_005133.2:p.Ser46Ter
ENST00000257248.2:c.137C>A	ENSP00000257248.2:p.Ser46Ter
ENST00000525058.5:c.*104C>A	ENSP00000433196.1:n.*104C>A
ENST00000532070.1:n.183C>A
XM_011544939.1:c.137C>A	XP_011543241.1:p.Ser46Ter
XM_011544939.3:c.137C>A	XP_011543241.1:p.Ser46Ter