Canonical Allele Identifier: CA389667499
Community Standard Title: NM_015915.5(ATL1):c.482C>T (p.Ala161Val)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50591599C>T , CM000676.2:g.50591599C>T GRCh38
NC_000014.8:g.51058317C>T , CM000676.1:g.51058317C>T GRCh37
NC_000014.7:g.50128067C>T NCBI36
NG_009028.1:g.63518C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.482C>T MANE Select NP_056999.2:p.Ala161Val
ENST00000358385.12:c.482C>T MANE Select ENSP00000351155.7:p.Ala161Val
NM_001127713.1:c.482C>T NP_001121185.1:p.Ala161Val
NM_015915.4:c.482C>T NP_056999.2:p.Ala161Val
NM_181598.3:c.482C>T NP_853629.2:p.Ala161Val
NM_181598.4:c.482C>T NP_853629.2:p.Ala161Val
ENST00000358385.10:c.482C>T ENSP00000351155.6:p.Ala161Val
ENST00000441560.6:c.482C>T ENSP00000413675.2:p.Ala161Val
ENST00000553509.2:c.482C>T ENSP00000450989.2:p.Ala161Val
ENST00000553746.1:n.152C>T
ENST00000553746.2:n.2440C>T
ENST00000554886.1:c.50C>T ENSP00000452074.1:p.Ala17Val
ENST00000556478.3:c.482C>T ENSP00000501428.2:p.Ala161Val
ENST00000674288.1:c.*1774C>T ENSP00000501522.1:n.*1774C>T
ENST00000674478.1:n.816C>T
ENST00000682037.1:c.482C>T ENSP00000508289.1:p.Ala161Val
ENST00000682219.1:n.1820C>T
ENST00000682226.1:n.816C>T
ENST00000682487.1:n.816C>T
ENST00000683330.1:n.816C>T
ENST00000683703.1:n.816C>T
ENST00000683837.1:n.816C>T
ENST00000684737.1:n.816C>T