Canonical Allele Identifier: CA389675802
Community Standard Title: NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628134T>C , CM000676.2:g.50628134T>C GRCh38
NC_000014.8:g.51094852T>C , CM000676.1:g.51094852T>C GRCh37
NC_000014.7:g.50164602T>C NCBI36
NG_009028.1:g.100053T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.1223T>C MANE Select NP_056999.2:p.Met408Thr
ENST00000358385.12:c.1223T>C MANE Select ENSP00000351155.7:p.Met408Thr
NM_001127713.1:c.1223T>C NP_001121185.1:p.Met408Thr
NM_015915.4:c.1223T>C NP_056999.2:p.Met408Thr
NM_181598.3:c.1223T>C NP_853629.2:p.Met408Thr
NM_181598.4:c.1223T>C NP_853629.2:p.Met408Thr
ENST00000358385.10:c.1223T>C ENSP00000351155.6:p.Met408Thr
ENST00000441560.6:c.1223T>C ENSP00000413675.2:p.Met408Thr
ENST00000553509.2:c.1223T>C ENSP00000450989.2:p.Met408Thr
ENST00000555266.1:c.366T>C ENSP00000450897.1:n.366T>C
ENST00000556478.3:c.1223T>C ENSP00000501428.2:p.Met408Thr
ENST00000674288.1:c.*2515T>C ENSP00000501522.1:n.*2515T>C
ENST00000682037.1:c.1223T>C ENSP00000508289.1:p.Met408Thr
ENST00000682219.1:n.2561T>C
ENST00000683037.1:n.1144T>C
ENST00000683330.1:n.1557T>C