Canonical Allele Identifier: CA389659806

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50560292C>A , CM000676.2:g.50560292C>A GRCh38
NC_000014.8:g.51027010C>A , CM000676.1:g.51027010C>A GRCh37
NC_000014.7:g.50096760C>A NCBI36
NG_009028.1:g.32211C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.27C>A (ATL1) ENSP00000450989.2:p.Asn9Lys
ENST00000553746.2:n.228C>A (ATL1)
ENST00000556478.3:c.27C>A (ATL1) ENSP00000501428.2:p.Asn9Lys
ENST00000682037.1:c.27C>A (ATL1) ENSP00000508289.1:p.Asn9Lys
ENST00000682219.1:n.906C>A (ATL1)
ENST00000682226.1:n.361C>A (ATL1)
ENST00000682487.1:n.361C>A (ATL1)
ENST00000683330.1:n.361C>A (ATL1)
ENST00000683703.1:n.361C>A (ATL1)
ENST00000683837.1:n.361C>A (ATL1)
ENST00000684737.1:n.361C>A (ATL1)
ENST00000358385.12:c.27C>A (ATL1) MANE Select ENSP00000351155.7:p.Asn9Lys
ENST00000674288.1:c.27C>A (ATL1) ENSP00000501522.1:p.Asn9Lys
ENST00000674478.1:n.361C>A (ATL1)
ENST00000358385.10:c.27C>A (ATL1) ENSP00000351155.6:p.Asn9Lys
ENST00000441560.6:c.27C>A (ATL1) ENSP00000413675.2:p.Asn9Lys
ENST00000553509.1:c.27C>A (ATL1) ENSP00000450989.1:p.Asn9Lys
ENST00000554886.1:c.-158C>A (ATL1) ENSP00000452074.1:n.-158C>A
ENST00000555216.5:c.-180+748G>T (MAP4K5) ENSP00000452289.1:n.-180+748G>T
ENST00000555960.5:c.27C>A (ATL1) ENSP00000452506.1:p.Asn9Lys
ENST00000556478.2:n.531C>A (ATL1)
ENST00000557735.1:c.-424C>A (ATL1) ENSP00000451015.1:n.-424C>A
NM_001127713.1:c.27C>A (ATL1) NP_001121185.1:p.Asn9Lys
NM_015915.4:c.27C>A (ATL1) NP_056999.2:p.Asn9Lys
NM_181598.3:c.27C>A (ATL1) NP_853629.2:p.Asn9Lys
XM_011536378.1:c.-180+748G>T (MAP4K5) XP_011534680.1:n.-180+748G>T
XM_011536378.3:c.-180+748G>T (MAP4K5) XP_011534680.1:n.-180+748G>T
XM_024449461.1:c.-196+748G>T (MAP4K5) XP_024305229.1:n.-196+748G>T
NM_015915.5:c.27C>A (ATL1) MANE Select NP_056999.2:p.Asn9Lys
NM_181598.4:c.27C>A (ATL1) NP_853629.2:p.Asn9Lys