Canonical Allele Identifier: CA446210416

Gene: APC

Linked Data

• ClinVar Variation Id: 1577218
• ClinVar RCV Id: RCV003653562
• dbSNP Id: rs2149975377
• MyVariant Identifiers: chr5:g.112178173G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842476G>C , CM000667.2:g.112842476G>C	GRCh38
NC_000005.9:g.112178173G>C , CM000667.1:g.112178173G>C	GRCh37
NC_000005.8:g.112206072G>C	NCBI36
NG_008481.4:g.154956G>C , LRG_130:g.154956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6936G>C	ENSP00000473355.2:p.Gly2312=
ENST00000505350.2:c.*6888G>C	ENSP00000481752.1:n.*6888G>C
ENST00000507379.6:c.6828G>C	ENSP00000423224.2:p.Gly2276=
ENST00000509732.6:c.6882G>C	ENSP00000426541.2:p.Gly2294=
ENST00000512211.7:c.6882G>C	ENSP00000423828.3:p.Gly2294=
ENST00000257430.9:c.6882G>C MANE Select	ENSP00000257430.4:p.Gly2294=
ENST00000257430.8:c.6882G>C	ENSP00000257430.4:p.Gly2294=
ENST00000508376.6:c.6882G>C	ENSP00000427089.2:p.Gly2294=
ENST00000508624.5:c.*6204G>C	ENSP00000424265.1:n.*6204G>C
ENST00000520401.1:c.230+13504G>C
NM_000038.5:c.6882G>C	NP_000029.2:p.Gly2294=
NM_001127510.2:c.6882G>C	NP_001120982.1:p.Gly2294=
NM_001127511.2:c.6828G>C	NP_001120983.2:p.Gly2276=
NM_001354895.1:c.6882G>C	NP_001341824.1:p.Gly2294=
NM_001354896.1:c.6936G>C	NP_001341825.1:p.Gly2312=
NM_001354897.1:c.6912G>C	NP_001341826.1:p.Gly2304=
NM_001354898.1:c.6807G>C	NP_001341827.1:p.Gly2269=
NM_001354899.1:c.6798G>C	NP_001341828.1:p.Gly2266=
NM_001354900.1:c.6759G>C	NP_001341829.1:p.Gly2253=
NM_001354901.1:c.6705G>C	NP_001341830.1:p.Gly2235=
NM_001354902.1:c.6609G>C	NP_001341831.1:p.Gly2203=
NM_001354903.1:c.6579G>C	NP_001341832.1:p.Gly2193=
NM_001354904.1:c.6504G>C	NP_001341833.1:p.Gly2168=
NM_001354905.1:c.6402G>C	NP_001341834.1:p.Gly2134=
NM_001354906.1:c.6033G>C	NP_001341835.1:p.Gly2011=
NM_000038.6:c.6882G>C MANE Select	NP_000029.2:p.Gly2294=
NM_001127510.3:c.6882G>C	NP_001120982.1:p.Gly2294=
NM_001127511.3:c.6828G>C	NP_001120983.2:p.Gly2276=
NM_001354895.2:c.6882G>C	NP_001341824.1:p.Gly2294=
NM_001354896.2:c.6936G>C	NP_001341825.1:p.Gly2312=
NM_001354897.2:c.6912G>C	NP_001341826.1:p.Gly2304=
NM_001354898.2:c.6807G>C	NP_001341827.1:p.Gly2269=
NM_001354899.2:c.6798G>C	NP_001341828.1:p.Gly2266=
NM_001354900.2:c.6759G>C	NP_001341829.1:p.Gly2253=
NM_001354901.2:c.6705G>C	NP_001341830.1:p.Gly2235=
NM_001354902.2:c.6609G>C	NP_001341831.1:p.Gly2203=
NM_001354903.2:c.6579G>C	NP_001341832.1:p.Gly2193=
NM_001354904.2:c.6504G>C	NP_001341833.1:p.Gly2168=
NM_001354905.2:c.6402G>C	NP_001341834.1:p.Gly2134=
NM_001354906.2:c.6033G>C	NP_001341835.1:p.Gly2011=