Canonical Allele Identifier: CA389666593
Community Standard Title: NM_015915.5(ATL1):c.335G>A (p.Trp112Ter)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50590993G>A , CM000676.2:g.50590993G>A GRCh38
NC_000014.8:g.51057711G>A , CM000676.1:g.51057711G>A GRCh37
NC_000014.7:g.50127461G>A NCBI36
NG_009028.1:g.62912G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.335G>A MANE Select NP_056999.2:p.Trp112Ter
ENST00000358385.12:c.335G>A MANE Select ENSP00000351155.7:p.Trp112Ter
NM_001127713.1:c.335G>A NP_001121185.1:p.Trp112Ter
NM_015915.4:c.335G>A NP_056999.2:p.Trp112Ter
NM_181598.3:c.335G>A NP_853629.2:p.Trp112Ter
NM_181598.4:c.335G>A NP_853629.2:p.Trp112Ter
ENST00000358385.10:c.335G>A ENSP00000351155.6:p.Trp112Ter
ENST00000441560.6:c.335G>A ENSP00000413675.2:p.Trp112Ter
ENST00000553509.2:c.335G>A ENSP00000450989.2:p.Trp112Ter
ENST00000553746.1:n.5G>A
ENST00000553746.2:n.2293G>A
ENST00000554886.1:c.-98G>A ENSP00000452074.1:n.-98G>A
ENST00000556478.3:c.335G>A ENSP00000501428.2:p.Trp112Ter
ENST00000557735.1:c.86G>A ENSP00000451015.1:p.Trp29Ter
ENST00000674288.1:c.*1627G>A ENSP00000501522.1:n.*1627G>A
ENST00000674478.1:n.669G>A
ENST00000682037.1:c.335G>A ENSP00000508289.1:p.Trp112Ter
ENST00000682219.1:n.1214G>A
ENST00000682226.1:n.669G>A
ENST00000682487.1:n.669G>A
ENST00000683330.1:n.669G>A
ENST00000683703.1:n.669G>A
ENST00000683837.1:n.669G>A
ENST00000684737.1:n.669G>A