Canonical Allele Identifier: CA389671499

Gene: ATL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50614398T>C , CM000676.2:g.50614398T>C	GRCh38
NC_000014.8:g.51081116T>C , CM000676.1:g.51081116T>C	GRCh37
NC_000014.7:g.50150866T>C	NCBI36
NG_009028.1:g.86317T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015915.5:c.749T>C MANE Select	NP_056999.2:p.Leu250Pro
ENST00000358385.12:c.749T>C MANE Select	ENSP00000351155.7:p.Leu250Pro
NM_001127713.1:c.749T>C	NP_001121185.1:p.Leu250Pro
NM_015915.4:c.749T>C	NP_056999.2:p.Leu250Pro
NM_181598.3:c.749T>C	NP_853629.2:p.Leu250Pro
NM_181598.4:c.749T>C	NP_853629.2:p.Leu250Pro
ENST00000358385.10:c.749T>C	ENSP00000351155.6:p.Leu250Pro
ENST00000441560.6:c.749T>C	ENSP00000413675.2:p.Leu250Pro
ENST00000553509.2:c.749T>C	ENSP00000450989.2:p.Leu250Pro
ENST00000555266.1:c.20T>C	ENSP00000450897.1:p.Leu7Pro
ENST00000556478.3:c.749T>C	ENSP00000501428.2:p.Leu250Pro
ENST00000674288.1:c.*2041T>C	ENSP00000501522.1:n.*2041T>C
ENST00000682037.1:c.749T>C	ENSP00000508289.1:p.Leu250Pro
ENST00000682219.1:n.2087T>C
ENST00000682487.1:n.1083T>C
ENST00000683037.1:n.670T>C
ENST00000683330.1:n.1083T>C
ENST00000683837.1:n.1083T>C