Canonical Allele Identifier: CA4185777

Gene: HYCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22945984C>G , CM000669.2:g.22945984C>G	GRCh38
NC_000007.13:g.22985603C>G , CM000669.1:g.22985603C>G	GRCh37
NC_000007.12:g.22952128C>G	NCBI36
NG_008392.1:g.73168G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032581.4:c.1171G>C MANE Select	NP_115970.2:p.Gly391Arg
ENST00000432176.7:c.1171G>C MANE Select	ENSP00000403396.2:p.Gly391Arg
NM_001363466.1:c.*207G>C	NP_001350395.1:n.*207G>C
NM_001363466.2:c.*207G>C	NP_001350395.1:n.*207G>C
NM_001363467.1:c.*165G>C	NP_001350396.1:n.*165G>C
NM_001363467.2:c.*165G>C	NP_001350396.1:n.*165G>C
NM_032581.3:c.1171G>C	NP_115970.2:p.Gly391Arg
ENST00000409923.5:c.*207G>C	ENSP00000386246.1:n.*207G>C
ENST00000432176.6:c.1171G>C	ENSP00000403396.2:p.Gly391Arg
ENST00000440481.5:c.1622G>C
ENST00000440481.6:c.*207G>C	ENSP00000397168.2:n.*207G>C
ENST00000465661.2:n.1182+14272G>C
ENST00000498833.1:n.637G>C
ENST00000679789.1:c.*324G>C	ENSP00000506308.1:n.*324G>C
ENST00000679826.1:c.739G>C	ENSP00000505460.1:p.Gly247Arg
ENST00000680721.1:n.1194G>C
ENST00000681079.1:c.*324G>C	ENSP00000506370.1:n.*324G>C
ENST00000681237.1:c.*827G>C	ENSP00000505270.1:n.*827G>C
ENST00000681402.1:c.*881G>C	ENSP00000506692.1:n.*881G>C
ENST00000681766.1:c.1117G>C	ENSP00000505161.1:p.Gly373Arg
XM_005249894.3:c.*207G>C	XP_005249951.1:n.*207G>C
XM_005249895.1:c.*165G>C	XP_005249952.1:n.*165G>C
XM_006715799.2:c.646G>C	XP_006715862.1:p.Gly216Arg
XM_011515589.1:c.1171G>C	XP_011513891.1:p.Gly391Arg
XM_011515589.2:c.1171G>C	XP_011513891.1:p.Gly391Arg
XM_011515590.1:c.991+14272G>C	XP_011513892.1:n.991+14272G>C
XM_011515590.2:c.991+14272G>C	XP_011513892.1:n.991+14272G>C