Canonical Allele Identifier: CA389673668

Gene: ATL1

Linked Data

• MyVariant Identifiers: chr14:g.51088611G>C (hg19) ; chr14:g.50621893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50621893G>C , CM000676.2:g.50621893G>C	GRCh38
NC_000014.8:g.51088611G>C , CM000676.1:g.51088611G>C	GRCh37
NC_000014.7:g.50158361G>C	NCBI36
NG_009028.1:g.93812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1041G>C	ENSP00000450989.2:p.Met347Ile
ENST00000556478.3:c.1041G>C	ENSP00000501428.2:p.Met347Ile
ENST00000682037.1:c.1041G>C	ENSP00000508289.1:p.Met347Ile
ENST00000682219.1:n.2379G>C
ENST00000682487.1:n.1375G>C
ENST00000683037.1:n.962G>C
ENST00000683330.1:n.1375G>C
ENST00000683837.1:n.1375G>C
ENST00000358385.12:c.1041G>C MANE Select	ENSP00000351155.7:p.Met347Ile
ENST00000674288.1:c.*2333G>C	ENSP00000501522.1:n.*2333G>C
ENST00000358385.10:c.1041G>C	ENSP00000351155.6:p.Met347Ile
ENST00000441560.6:c.1041G>C	ENSP00000413675.2:p.Met347Ile
ENST00000555266.1:c.184G>C	ENSP00000450897.1:n.184G>C
NM_001127713.1:c.1041G>C	NP_001121185.1:p.Met347Ile
NM_015915.4:c.1041G>C	NP_056999.2:p.Met347Ile
NM_181598.3:c.1041G>C	NP_853629.2:p.Met347Ile
NM_015915.5:c.1041G>C MANE Select	NP_056999.2:p.Met347Ile
NM_181598.4:c.1041G>C	NP_853629.2:p.Met347Ile