Canonical Allele Identifier: CA389666367

Gene: ATL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50590957T>C , CM000676.2:g.50590957T>C	GRCh38
NC_000014.8:g.51057675T>C , CM000676.1:g.51057675T>C	GRCh37
NC_000014.7:g.50127425T>C	NCBI36
NG_009028.1:g.62876T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015915.5:c.299T>C MANE Select	NP_056999.2:p.Val100Ala
ENST00000358385.12:c.299T>C MANE Select	ENSP00000351155.7:p.Val100Ala
NM_001127713.1:c.299T>C	NP_001121185.1:p.Val100Ala
NM_015915.4:c.299T>C	NP_056999.2:p.Val100Ala
NM_181598.3:c.299T>C	NP_853629.2:p.Val100Ala
NM_181598.4:c.299T>C	NP_853629.2:p.Val100Ala
ENST00000358385.10:c.299T>C	ENSP00000351155.6:p.Val100Ala
ENST00000441560.6:c.299T>C	ENSP00000413675.2:p.Val100Ala
ENST00000553509.2:c.299T>C	ENSP00000450989.2:p.Val100Ala
ENST00000553746.2:n.2257T>C
ENST00000554886.1:c.-134T>C	ENSP00000452074.1:n.-134T>C
ENST00000555960.5:c.299T>C
ENST00000556478.3:c.299T>C	ENSP00000501428.2:p.Val100Ala
ENST00000557735.1:c.50T>C	ENSP00000451015.1:p.Val17Ala
ENST00000674288.1:c.*1591T>C	ENSP00000501522.1:n.*1591T>C
ENST00000674478.1:n.633T>C
ENST00000682037.1:c.299T>C	ENSP00000508289.1:p.Val100Ala
ENST00000682219.1:n.1178T>C
ENST00000682226.1:n.633T>C
ENST00000682487.1:n.633T>C
ENST00000683330.1:n.633T>C
ENST00000683703.1:n.633T>C
ENST00000683837.1:n.633T>C
ENST00000684737.1:n.633T>C