Canonical Allele Identifier: CA9291135

Gene: ANKLE1

Linked Data

• dbSNP Id: rs772739171
• ExAC: 19:17394135 C / T
• gnomAD v2: 19-17394135-C-T
• gnomAD v3: 19-17283326-C-T
• gnomAD v4: 19-17283326-C-T
• MyVariant Identifiers: chr19:g.17394135C>T (hg19) ; chr19:g.17283326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283326C>T , CM000681.2:g.17283326C>T	GRCh38
NC_000019.9:g.17394135C>T , CM000681.1:g.17394135C>T	GRCh37
NC_000019.8:g.17255135C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.562C>T MANE Select	ENSP00000384008.3:p.Pro188Ser
ENST00000404261.9:c.562C>T	ENSP00000384753.6:p.Pro188Ser
ENST00000594072.6:c.562C>T	ENSP00000468845.4:p.Pro188Ser
ENST00000651416.1:n.779C>T
ENST00000652132.1:c.529C>T	ENSP00000498416.1:p.Pro177Ser
ENST00000394458.7:c.724C>T	ENSP00000377971.4:p.Pro242Ser
ENST00000404085.5:c.*461C>T	ENSP00000384008.2:n.*461C>T
ENST00000404261.8:c.724C>T	ENSP00000384753.5:p.Pro242Ser
ENST00000594072.5:c.724C>T	ENSP00000468845.3:p.Pro242Ser
ENST00000596626.1:n.675C>T
ENST00000598347.2:c.564C>T
NM_001278443.1:c.691C>T	NP_001265372.1:p.Pro231Ser
NM_001278444.1:c.724C>T	NP_001265373.1:p.Pro242Ser
NM_001278445.1:c.628C>T	NP_001265374.1:p.Pro210Ser
NM_152363.5:c.724C>T	NP_689576.5:p.Pro242Ser
NR_103530.1:n.838C>T
NM_001278443.2:c.529C>T	NP_001265372.2:p.Pro177Ser
NM_001278444.2:c.562C>T	NP_001265373.2:p.Pro188Ser
NM_001278445.2:c.520C>T	NP_001265374.2:p.Pro174Ser
NM_152363.6:c.562C>T MANE Select	NP_689576.6:p.Pro188Ser
NR_103530.2:n.582C>T