Canonical Allele Identifier: CA361518756

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1488281
• ClinVar RCV Id: RCV001988501
• dbSNP Id: rs2154596289
• gnomAD v4: 5-141573800-T-A
• MyVariant Identifiers: chr5:g.140953367T>A (hg19) ; chr5:g.141573800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573800T>A , CM000667.2:g.141573800T>A	GRCh38
NC_000005.9:g.140953367T>A , CM000667.1:g.140953367T>A	GRCh37
NC_000005.8:g.140933551T>A	NCBI36
NG_011594.1:g.50256A>T
NG_011594.2:g.50256A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2050A>T MANE Select	ENSP00000373706.4:p.Ser684Cys
ENST00000647433.1:c.2050A>T	ENSP00000494675.1:p.Ser684Cys
ENST00000253811.10:c.1918A>T	ENSP00000253811.7:p.Ser640Cys
ENST00000389054.7:c.2050A>T	ENSP00000373706.4:p.Ser684Cys
ENST00000389057.9:c.2023A>T	ENSP00000373709.6:p.Ser675Cys
ENST00000398557.8:c.2050A>T	ENSP00000381565.5:p.Ser684Cys
ENST00000518047.5:c.2023A>T	ENSP00000428268.2:p.Ser675Cys
NM_001079812.2:c.2023A>T	NP_001073280.1:p.Ser675Cys
NM_001314007.1:c.2050A>T	NP_001300936.1:p.Ser684Cys
NM_005219.4:c.2050A>T	NP_005210.3:p.Ser684Cys
XM_011537572.1:c.2014A>T	XP_011535874.1:p.Ser672Cys
XM_011537573.1:c.1984A>T	XP_011535875.1:p.Ser662Cys
XM_024454384.1:c.2050A>T	XP_024310152.1:p.Ser684Cys
XM_024454385.1:c.2023A>T	XP_024310153.1:p.Ser675Cys
XM_024454386.1:c.2014A>T	XP_024310154.1:p.Ser672Cys
XM_024454387.1:c.1984A>T	XP_024310155.1:p.Ser662Cys
NM_005219.5:c.2050A>T MANE Select	NP_005210.3:p.Ser684Cys
NM_001079812.3:c.2023A>T	NP_001073280.1:p.Ser675Cys
NM_001314007.2:c.2050A>T	NP_001300936.1:p.Ser684Cys