Canonical Allele Identifier: CA388175168

Gene: CAB39L

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49332009T>A , CM000675.2:g.49332009T>A	GRCh38
NC_000013.10:g.49906145T>A , CM000675.1:g.49906145T>A	GRCh37
NC_000013.9:g.48804146T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409308.6:c.772A>T MANE Select	ENSP00000386375.1:p.Met258Leu
ENST00000347776.9:c.772A>T	ENSP00000261669.7:p.Met258Leu
ENST00000355854.8:c.772A>T	ENSP00000348113.4:p.Met258Leu
ENST00000409130.5:c.340A>T	ENSP00000387245.1:p.Met114Leu
ENST00000409308.5:c.772A>T	ENSP00000386375.1:p.Met258Leu
ENST00000410043.5:c.772A>T	ENSP00000386328.1:p.Met258Leu
ENST00000425242.5:c.601A>T	ENSP00000416719.1:p.Met201Leu
ENST00000610540.4:c.772A>T	ENSP00000479669.1:p.Met258Leu
NM_001079670.2:c.772A>T	NP_001073138.1:p.Met258Leu
NM_001287337.1:c.772A>T	NP_001274266.1:p.Met258Leu
NM_001287338.1:c.772A>T	NP_001274267.1:p.Met258Leu
NM_001287339.1:c.772A>T	NP_001274268.1:p.Met258Leu
NM_030925.3:c.772A>T	NP_112187.2:p.Met258Leu
XM_011535254.1:c.772A>T	XP_011533556.1:p.Met258Leu
XM_011535255.1:c.772A>T	XP_011533557.1:p.Met258Leu
XM_011535256.1:c.772A>T	XP_011533558.1:p.Met258Leu
XM_011535257.1:c.772A>T	XP_011533559.1:p.Met258Leu
XM_011535254.3:c.772A>T	XP_011533556.1:p.Met258Leu
XM_011535255.3:c.772A>T	XP_011533557.1:p.Met258Leu
XM_011535256.3:c.772A>T	XP_011533558.1:p.Met258Leu
XM_017020785.2:c.772A>T	XP_016876274.1:p.Met258Leu
XM_017020786.2:c.772A>T	XP_016876275.1:p.Met258Leu
XM_017020787.2:c.772A>T	XP_016876276.1:p.Met258Leu
XM_017020788.2:c.772A>T	XP_016876277.1:p.Met258Leu
NM_001079670.3:c.772A>T MANE Select	NP_001073138.1:p.Met258Leu
NM_001287337.2:c.772A>T	NP_001274266.1:p.Met258Leu
NM_030925.4:c.772A>T	NP_112187.2:p.Met258Leu
NM_001287338.2:c.772A>T	NP_001274267.1:p.Met258Leu
NM_001287339.2:c.772A>T	NP_001274268.1:p.Met258Leu