Canonical Allele Identifier: CA7929452
Community Standard Title: NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)
Gene: ARL6IP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.18794662A>G , CM000678.2:g.18794662A>G GRCh38
NC_000016.9:g.18805984A>G , CM000678.1:g.18805984A>G GRCh37
NC_000016.8:g.18713485A>G NCBI36
NG_042860.1:g.12017T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015161.3:c.430T>C MANE Select NP_055976.1:p.Ser144Pro
ENST00000304414.12:c.430T>C MANE Select ENSP00000306788.7:p.Ser144Pro
NM_001313858.1:c.343T>C NP_001300787.1:p.Ser115Pro
NM_015161.1:c.430T>C NP_055976.1:p.Ser144Pro
NM_015161.2:c.430T>C NP_055976.1:p.Ser144Pro
ENST00000304414.11:c.430T>C ENSP00000306788.7:p.Ser144Pro
ENST00000546206.6:c.343T>C ENSP00000440048.2:p.Ser115Pro
ENST00000562819.5:c.149-1292T>C ENSP00000457372.1:n.149-1292T>C
ENST00000563861.5:c.*12T>C ENSP00000456596.1:n.*12T>C
ENST00000567078.2:c.430T>C ENSP00000454746.2:p.Ser144Pro