Canonical Allele Identifier: CA7180472

Gene: ATL1

Linked Data

• ClinVar Variation Id: 857576
• ClinVar RCV Id: RCV001063282 ; RCV002462308
• dbSNP Id: rs759126910
• ExAC: 14:51094984 T / C
• gnomAD v2: 14-51094984-T-C
• gnomAD v3: 14-50628266-T-C
• gnomAD v4: 14-50628266-T-C
• MyVariant Identifiers: chr14:g.51094984T>C (hg19) ; chr14:g.50628266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628266T>C , CM000676.2:g.50628266T>C	GRCh38
NC_000014.8:g.51094984T>C , CM000676.1:g.51094984T>C	GRCh37
NC_000014.7:g.50164734T>C	NCBI36
NG_009028.1:g.100185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1355T>C	ENSP00000450989.2:p.Phe452Ser
ENST00000556478.3:c.1355T>C	ENSP00000501428.2:p.Phe452Ser
ENST00000682037.1:c.1355T>C	ENSP00000508289.1:p.Phe452Ser
ENST00000682219.1:n.2693T>C
ENST00000683037.1:n.1276T>C
ENST00000683330.1:n.1689T>C
ENST00000358385.12:c.1355T>C MANE Select	ENSP00000351155.7:p.Phe452Ser
ENST00000674288.1:c.*2647T>C	ENSP00000501522.1:n.*2647T>C
ENST00000358385.10:c.1355T>C	ENSP00000351155.6:p.Phe452Ser
ENST00000441560.6:c.1355T>C	ENSP00000413675.2:p.Phe452Ser
ENST00000556067.1:c.101T>C	ENSP00000451100.1:p.Phe34Ser
NM_001127713.1:c.1355T>C	NP_001121185.1:p.Phe452Ser
NM_015915.4:c.1355T>C	NP_056999.2:p.Phe452Ser
NM_181598.3:c.1355T>C	NP_853629.2:p.Phe452Ser
NM_015915.5:c.1355T>C MANE Select	NP_056999.2:p.Phe452Ser
NM_181598.4:c.1355T>C	NP_853629.2:p.Phe452Ser