Canonical Allele Identifier: CA229623534

Gene: HYOU1

Linked Data

• ClinVar Variation Id: 1446476
• ClinVar RCV Id: RCV001987693
• dbSNP Id: rs371797979 ; rs2133594298
• gnomAD v3: 11-119052645-T-C
• gnomAD v4: 11-119052645-T-C
• MyVariant Identifiers: chr11:g.119052645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119052645T>C , CM000673.2:g.119052645T>C	GRCh38
NC_000011.8:g.118428567T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000527038.7:c.979A>G	ENSP00000463742.3:p.Met327Val
ENST00000530467.6:c.979A>G	ENSP00000479845.2:p.Met327Val
ENST00000530473.6:c.979A>G	ENSP00000431874.2:p.Met327Val
ENST00000532421.6:c.979A>G	ENSP00000463515.2:p.Met327Val
ENST00000532519.7:c.979A>G	ENSP00000467866.3:p.Met327Val
ENST00000533381.6:n.1216A>G
ENST00000534233.6:c.979A>G	ENSP00000462951.2:p.Met327Val
ENST00000610597.2:c.979A>G	ENSP00000484622.2:p.Met327Val
ENST00000614711.5:c.979A>G	ENSP00000480248.2:p.Met327Val
ENST00000694929.1:n.1533A>G
ENST00000694930.1:n.1169A>G
ENST00000694932.1:c.979A>G	ENSP00000511598.1:p.Met327Val
ENST00000694933.1:c.979A>G	ENSP00000511599.1:p.Met327Val
ENST00000694934.1:c.979A>G	ENSP00000511600.1:p.Met327Val
ENST00000694935.1:c.979A>G	ENSP00000511601.1:p.Met327Val
ENST00000694937.1:c.*498A>G	ENSP00000511603.1:n.*498A>G
ENST00000617285.5:c.979A>G MANE Select	ENSP00000480150.1:p.Met327Val
ENST00000652093.1:c.979A>G	ENSP00000498353.1:p.Met327Val
ENST00000530473.5:c.979A>G	ENSP00000431874.1:p.Met327Val
ENST00000531694.5:n.2085A>G
ENST00000532519.6:c.979A>G	ENSP00000467866.2:p.Met327Val
ENST00000543287.5:c.*768A>G	ENSP00000442727.2:n.*768A>G
ENST00000612687.4:c.979A>G	ENSP00000483106.1:p.Met327Val
ENST00000614668.4:c.436+2399A>G	ENSP00000482199.1:n.436+2399A>G
ENST00000614711.4:c.979A>G	ENSP00000480248.1:p.Met327Val
ENST00000617285.4:c.979A>G	ENSP00000480150.1:p.Met327Val
ENST00000621959.4:c.979A>G	ENSP00000484186.1:p.Met327Val
NM_001130991.2:c.979A>G	NP_001124463.1:p.Met327Val
NM_006389.4:c.979A>G	NP_006380.1:p.Met327Val
XM_005271392.2:c.979A>G	XP_005271449.1:p.Met327Val
XM_005271393.2:c.979A>G	XP_005271450.1:p.Met327Val
XM_005271394.2:c.979A>G	XP_005271451.1:p.Met327Val
XM_011542557.1:c.1111A>G	XP_011540859.1:p.Met371Val
XM_011542558.1:c.1111A>G	XP_011540860.1:p.Met371Val
XR_947790.1:n.1126A>G
XM_005271392.4:c.979A>G	XP_005271449.1:p.Met327Val
XM_005271393.3:c.979A>G	XP_005271450.1:p.Met327Val
XM_005271394.3:c.979A>G	XP_005271451.1:p.Met327Val
XM_017017095.1:c.979A>G	XP_016872584.1:p.Met327Val
XM_017017096.1:c.979A>G	XP_016872585.1:p.Met327Val
XM_017017097.1:c.979A>G	XP_016872586.1:p.Met327Val
XR_001747729.1:n.1109A>G
XR_002957117.1:n.1109A>G
NM_006389.5:c.979A>G MANE Select	NP_006380.1:p.Met327Val
NM_001130991.3:c.979A>G	NP_001124463.1:p.Met327Val