Canonical Allele Identifier: CA249345

Gene: DISP1

Linked Data

• ClinVar Variation Id: 218820
• ClinVar RCV Id: RCV000203143
• dbSNP Id: rs864309626
• MyVariant Identifiers: chr1:g.223178932G>A (hg19) ; chr1:g.223005590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.223005590G>A , CM000663.2:g.223005590G>A	GRCh38
NC_000001.10:g.223178932G>A , CM000663.1:g.223178932G>A	GRCh37
NC_000001.9:g.221245555G>A	NCBI36
NG_009243.2:g.195502G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674709.1:c.*3720G>A	ENSP00000502092.1:n.*3720G>A
ENST00000674736.1:c.*3549G>A	ENSP00000501873.1:n.*3549G>A
ENST00000675039.1:c.4193G>A	ENSP00000501574.1:p.Ser1398Asn
ENST00000675850.1:c.4193G>A MANE Select	ENSP00000502357.1:p.Ser1398Asn
ENST00000675961.1:c.4193G>A	ENSP00000501808.1:p.Ser1398Asn
ENST00000676139.1:c.*3526G>A	ENSP00000502496.1:n.*3526G>A
ENST00000284476.7:c.4193G>A	ENSP00000284476.6:p.Ser1398Asn
NM_032890.3:c.4193G>A	NP_116279.2:p.Ser1398Asn
XM_005273335.1:c.4193G>A	XP_005273392.1:p.Ser1398Asn
XM_006711592.1:c.4193G>A	XP_006711655.1:p.Ser1398Asn
XM_006711594.2:c.3611G>A	XP_006711657.1:p.Ser1204Asn
XM_011510072.1:c.4193G>A	XP_011508374.1:p.Ser1398Asn
XM_011510073.1:c.4193G>A	XP_011508375.1:p.Ser1398Asn
XM_011510074.1:c.4193G>A	XP_011508376.1:p.Ser1398Asn
XM_011510075.1:c.4193G>A	XP_011508377.1:p.Ser1398Asn
XM_011510076.1:c.4193G>A	XP_011508378.1:p.Ser1398Asn
XM_011510077.1:c.4193G>A	XP_011508379.1:p.Ser1398Asn
XM_011510078.1:c.3611G>A	XP_011508380.1:p.Ser1204Asn
NM_001350630.1:c.3464G>A	NP_001337559.1:p.Ser1155Asn
NM_032890.4:c.4193G>A	NP_116279.2:p.Ser1398Asn
XM_005273335.2:c.4193G>A	XP_005273392.1:p.Ser1398Asn
XM_006711592.2:c.4193G>A	XP_006711655.1:p.Ser1398Asn
XM_006711594.3:c.3611G>A	XP_006711657.1:p.Ser1204Asn
XM_011510072.2:c.4193G>A	XP_011508374.1:p.Ser1398Asn
XM_011510073.2:c.4193G>A	XP_011508375.1:p.Ser1398Asn
XM_011510074.2:c.4193G>A	XP_011508376.1:p.Ser1398Asn
XM_011510075.2:c.4193G>A	XP_011508377.1:p.Ser1398Asn
XM_011510077.2:c.4193G>A	XP_011508379.1:p.Ser1398Asn
XM_017002611.1:c.4193G>A	XP_016858100.1:p.Ser1398Asn
XM_017002612.1:c.3611G>A	XP_016858101.1:p.Ser1204Asn
NM_001350630.2:c.3464G>A	NP_001337559.1:p.Ser1155Asn
NM_001369594.1:c.4193G>A	NP_001356523.1:p.Ser1398Asn
NM_001377228.1:c.4193G>A	NP_001364157.1:p.Ser1398Asn
NM_001377229.1:c.4193G>A MANE Select	NP_001364158.1:p.Ser1398Asn
NM_032890.5:c.4193G>A	NP_116279.2:p.Ser1398Asn