Canonical Allele Identifier: CA7929484
Community Standard Title: NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter)
Gene: ARL6IP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.18795526G>A , CM000678.2:g.18795526G>A GRCh38
NC_000016.9:g.18806848G>A , CM000678.1:g.18806848G>A GRCh37
NC_000016.8:g.18714349G>A NCBI36
NG_042860.1:g.11153C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015161.3:c.346C>T MANE Select NP_055976.1:p.Arg116Ter
ENST00000304414.12:c.346C>T MANE Select ENSP00000306788.7:p.Arg116Ter
NM_001313858.1:c.259C>T NP_001300787.1:p.Arg87Ter
NM_015161.1:c.346C>T NP_055976.1:p.Arg116Ter
NM_015161.2:c.346C>T NP_055976.1:p.Arg116Ter
ENST00000304414.11:c.346C>T ENSP00000306788.7:p.Arg116Ter
ENST00000546206.6:c.259C>T ENSP00000440048.2:p.Arg87Ter
ENST00000562234.2:c.232C>T ENSP00000455341.2:p.Arg78Ter
ENST00000562819.5:c.149-2156C>T ENSP00000457372.1:n.149-2156C>T
ENST00000563861.5:c.291-843C>T ENSP00000456596.1:n.291-843C>T
ENST00000567078.2:c.346C>T ENSP00000454746.2:p.Arg116Ter
ENST00000569976.5:n.428C>T