Canonical Allele Identifier: CA7180375

Gene: ATL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50620737C>T , CM000676.2:g.50620737C>T	GRCh38
NC_000014.8:g.51087455C>T , CM000676.1:g.51087455C>T	GRCh37
NC_000014.7:g.50157205C>T	NCBI36
NG_009028.1:g.92656C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015915.5:c.990+11C>T MANE Select	NP_056999.2:n.990+11C>T
ENST00000358385.12:c.990+11C>T MANE Select	ENSP00000351155.7:n.990+11C>T
NM_001127713.1:c.990+11C>T	NP_001121185.1:n.990+11C>T
NM_015915.4:c.990+11C>T	NP_056999.2:n.990+11C>T
NM_181598.3:c.990+11C>T	NP_853629.2:n.990+11C>T
NM_181598.4:c.990+11C>T	NP_853629.2:n.990+11C>T
ENST00000358385.10:c.990+11C>T	ENSP00000351155.6:n.990+11C>T
ENST00000441560.6:c.990+11C>T	ENSP00000413675.2:n.990+11C>T
ENST00000553509.2:c.990+11C>T	ENSP00000450989.2:n.990+11C>T
ENST00000555266.1:c.134-1106C>T	ENSP00000450897.1:n.134-1106C>T
ENST00000556478.3:c.990+11C>T	ENSP00000501428.2:n.990+11C>T
ENST00000674288.1:c.*2282+11C>T	ENSP00000501522.1:n.*2282+11C>T
ENST00000682037.1:c.990+11C>T	ENSP00000508289.1:n.990+11C>T
ENST00000682219.1:n.2328+11C>T
ENST00000682487.1:n.1324+11C>T
ENST00000683037.1:n.911+11C>T
ENST00000683330.1:n.1324+11C>T
ENST00000683837.1:n.1324+11C>T