Allele Registry

Canonical Allele Identifier: CA339886

Gene: HYCC1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr7:g.22991060C>T

GRCh37 chr7:g.23030679C>T

Linked Data - Sequence & Population

gnomAD v2:

7:23030679 C / T

gnomAD v4:

chr7-22991060-C-T

Joint Max Group AF 2.9e-7 (NFE)

Exomes Max Group AF 3e-7 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000001273

ClinVar Variation:

1214

dbSNP:

72549405

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22991060C>T , CM000669.2:g.22991060C>T	GRCh38
NC_000007.13:g.23030679C>T , CM000669.1:g.23030679C>T	GRCh37
NC_000007.12:g.22997204C>T	NCBI36
NG_008392.1:g.28092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432176.7:c.51+1G>A MANE Select	ENSP00000403396.2:n.51+1G>A
ENST00000440481.6:c.-381-7015G>A	ENSP00000397168.2:n.-381-7015G>A
ENST00000465661.2:n.242+1G>A
ENST00000467005.6:n.246+1G>A
ENST00000679789.1:c.51+1G>A	ENSP00000506308.1:n.51+1G>A
ENST00000679826.1:c.-570+1G>A	ENSP00000505460.1:n.-570+1G>A
ENST00000681079.1:c.51+1G>A	ENSP00000506370.1:n.51+1G>A
ENST00000681237.1:c.51+1G>A	ENSP00000505270.1:n.51+1G>A
ENST00000681402.1:c.51+1G>A	ENSP00000506692.1:n.51+1G>A
ENST00000681468.1:n.243+1G>A
ENST00000681766.1:c.51+1G>A	ENSP00000505161.1:n.51+1G>A
ENST00000409763.1:c.51+1G>A	ENSP00000386624.1:n.51+1G>A
ENST00000409923.5:c.51+1G>A	ENSP00000386246.1:n.51+1G>A
ENST00000432176.6:c.51+1G>A	ENSP00000403396.2:n.51+1G>A
ENST00000440481.5:c.207-7015G>A
ENST00000465661.1:n.285+1G>A
ENST00000467005.5:n.246+1G>A
ENST00000477349.5:n.243+1G>A
NM_032581.3:c.51+1G>A	NP_115970.2:n.51+1G>A
XM_005249894.3:c.51+1G>A	XP_005249951.1:n.51+1G>A
XM_005249895.1:c.51+1G>A	XP_005249952.1:n.51+1G>A
XM_011515589.1:c.51+1G>A	XP_011513891.1:n.51+1G>A
XM_011515590.1:c.51+1G>A	XP_011513892.1:n.51+1G>A
NM_001363466.1:c.51+1G>A	NP_001350395.1:n.51+1G>A
NM_001363467.1:c.51+1G>A	NP_001350396.1:n.51+1G>A
XM_011515589.2:c.51+1G>A	XP_011513891.1:n.51+1G>A
XM_011515590.2:c.51+1G>A	XP_011513892.1:n.51+1G>A
NM_001363466.2:c.51+1G>A	NP_001350395.1:n.51+1G>A
NM_001363467.2:c.51+1G>A	NP_001350396.1:n.51+1G>A
NM_032581.4:c.51+1G>A MANE Select	NP_115970.2:n.51+1G>A

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