Canonical Allele Identifier: CA389675796
Community Standard Title: NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628131A>T , CM000676.2:g.50628131A>T GRCh38
NC_000014.8:g.51094849A>T , CM000676.1:g.51094849A>T GRCh37
NC_000014.7:g.50164599A>T NCBI36
NG_009028.1:g.100050A>T

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.1220A>T MANE Select NP_056999.2:p.Lys407Met
ENST00000358385.12:c.1220A>T MANE Select ENSP00000351155.7:p.Lys407Met
NM_001127713.1:c.1220A>T NP_001121185.1:p.Lys407Met
NM_015915.4:c.1220A>T NP_056999.2:p.Lys407Met
NM_181598.3:c.1220A>T NP_853629.2:p.Lys407Met
NM_181598.4:c.1220A>T NP_853629.2:p.Lys407Met
ENST00000358385.10:c.1220A>T ENSP00000351155.6:p.Lys407Met
ENST00000441560.6:c.1220A>T ENSP00000413675.2:p.Lys407Met
ENST00000553509.2:c.1220A>T ENSP00000450989.2:p.Lys407Met
ENST00000555266.1:c.363A>T ENSP00000450897.1:n.363A>T
ENST00000556478.3:c.1220A>T ENSP00000501428.2:p.Lys407Met
ENST00000674288.1:c.*2512A>T ENSP00000501522.1:n.*2512A>T
ENST00000682037.1:c.1220A>T ENSP00000508289.1:p.Lys407Met
ENST00000682219.1:n.2558A>T
ENST00000683037.1:n.1141A>T
ENST00000683330.1:n.1554A>T