Canonical Allele Identifier: CA389665438
Community Standard Title: NM_015915.5(ATL1):c.118G>T (p.Val40Phe)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50587914G>T , CM000676.2:g.50587914G>T GRCh38
NC_000014.8:g.51054632G>T , CM000676.1:g.51054632G>T GRCh37
NC_000014.7:g.50124382G>T NCBI36
NG_009028.1:g.59833G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.118G>T MANE Select NP_056999.2:p.Val40Phe
ENST00000358385.12:c.118G>T MANE Select ENSP00000351155.7:p.Val40Phe
NM_001127713.1:c.118G>T NP_001121185.1:p.Val40Phe
NM_015915.4:c.118G>T NP_056999.2:p.Val40Phe
NM_181598.3:c.118G>T NP_853629.2:p.Val40Phe
NM_181598.4:c.118G>T NP_853629.2:p.Val40Phe
ENST00000358385.10:c.118G>T ENSP00000351155.6:p.Val40Phe
ENST00000441560.6:c.118G>T ENSP00000413675.2:p.Val40Phe
ENST00000553509.2:c.118G>T ENSP00000450989.2:p.Val40Phe
ENST00000553746.2:n.319G>T
ENST00000554886.1:c.-150-3027G>T ENSP00000452074.1:n.-150-3027G>T
ENST00000555960.5:c.118G>T ENSP00000452506.1:p.Val40Phe
ENST00000556478.2:n.622G>T
ENST00000556478.3:c.118G>T ENSP00000501428.2:p.Val40Phe
ENST00000557735.1:c.-132G>T ENSP00000451015.1:n.-132G>T
ENST00000674288.1:c.118G>T ENSP00000501522.1:p.Val40Phe
ENST00000674478.1:n.452G>T
ENST00000674503.1:c.-132G>T ENSP00000501520.1:n.-132G>T
ENST00000682037.1:c.118G>T ENSP00000508289.1:p.Val40Phe
ENST00000682219.1:n.997G>T
ENST00000682226.1:n.452G>T
ENST00000682487.1:n.452G>T
ENST00000683330.1:n.452G>T
ENST00000683703.1:n.452G>T
ENST00000683837.1:n.452G>T
ENST00000684737.1:n.452G>T