Canonical Allele Identifier: CA1450526

Gene: ARV1

Linked Data

• ClinVar Variation Id: 429868
• ClinVar RCV Id: RCV000493727 ; RCV002252139 ; RCV002524037
• dbSNP Id: rs141782810
• ExAC: 1:231131713 A / C
• gnomAD v2: 1-231131713-A-C
• gnomAD v3: 1-230995967-A-C
• gnomAD v4: 1-230995967-A-C
• MyVariant Identifiers: chr1:g.231131713A>C (hg19) ; chr1:g.230995967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230995967A>C , CM000663.2:g.230995967A>C	GRCh38
NC_000001.10:g.231131713A>C , CM000663.1:g.231131713A>C	GRCh37
NC_000001.9:g.229198336A>C	NCBI36
NG_052022.1:g.21919A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310256.7:c.656A>C MANE Select	ENSP00000312458.2:p.Asn219Thr
ENST00000310256.6:c.656A>C	ENSP00000312458.2:p.Asn219Thr
ENST00000366658.6:c.536A>C	ENSP00000355618.2:p.Asn179Thr
ENST00000435927.5:c.715A>C
ENST00000450711.5:c.646A>C
ENST00000459891.1:c.208A>C
ENST00000480519.5:c.584A>C	ENSP00000436763.1:p.Asn195Thr
ENST00000497753.1:n.1021A>C
NM_022786.1:c.656A>C	NP_073623.1:p.Asn219Thr
XR_949154.1:n.687A>C
NM_001346992.1:c.755A>C	NP_001333921.1:p.Asn252Thr
NM_022786.2:c.656A>C	NP_073623.1:p.Asn219Thr
NR_144538.1:n.713A>C
XM_024449202.1:c.779A>C	XP_024304970.1:p.Asn260Thr
XR_002957381.1:n.803A>C
NM_022786.3:c.656A>C MANE Select	NP_073623.1:p.Asn219Thr
NM_001346992.2:c.755A>C	NP_001333921.1:p.Asn252Thr
NR_144538.2:n.668A>C