Canonical Allele Identifier: CA389668239
Community Standard Title: NM_015915.5(ATL1):c.565C>G (p.His189Asp)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50593888C>G , CM000676.2:g.50593888C>G GRCh38
NC_000014.8:g.51060606C>G , CM000676.1:g.51060606C>G GRCh37
NC_000014.7:g.50130356C>G NCBI36
NG_009028.1:g.65807C>G

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.565C>G MANE Select NP_056999.2:p.His189Asp
ENST00000358385.12:c.565C>G MANE Select ENSP00000351155.7:p.His189Asp
NM_001127713.1:c.565C>G NP_001121185.1:p.His189Asp
NM_015915.4:c.565C>G NP_056999.2:p.His189Asp
NM_181598.3:c.565C>G NP_853629.2:p.His189Asp
NM_181598.4:c.565C>G NP_853629.2:p.His189Asp
ENST00000358385.10:c.565C>G ENSP00000351155.6:p.His189Asp
ENST00000441560.6:c.565C>G ENSP00000413675.2:p.His189Asp
ENST00000553509.2:c.565C>G ENSP00000450989.2:p.His189Asp
ENST00000554886.1:c.133C>G ENSP00000452074.1:p.His45Asp
ENST00000556478.3:c.565C>G ENSP00000501428.2:p.His189Asp
ENST00000674288.1:c.*1857C>G ENSP00000501522.1:n.*1857C>G
ENST00000674478.1:n.899C>G
ENST00000682037.1:c.565C>G ENSP00000508289.1:p.His189Asp
ENST00000682219.1:n.1903C>G
ENST00000682487.1:n.899C>G
ENST00000683330.1:n.899C>G
ENST00000683703.1:n.899C>G
ENST00000683837.1:n.899C>G
ENST00000684737.1:n.899C>G