Canonical Allele Identifier: CA279817

Gene: APC

Linked Data

• ClinVar Variation Id: 217977
• ClinVar RCV Id: RCV000202280 ; RCV003335212
• dbSNP Id: rs863225352
• MyVariant Identifiers: chr5:g.112175366A>T (hg19) ; chr5:g.112839669A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839669A>T , CM000667.2:g.112839669A>T	GRCh38
NC_000005.9:g.112175366A>T , CM000667.1:g.112175366A>T	GRCh37
NC_000005.8:g.112203265A>T	NCBI36
NG_008481.4:g.152149A>T , LRG_130:g.152149A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3740A>T	ENSP00000484935.2:n.3740A>T
ENST00000504915.3:c.4129A>T	ENSP00000473355.2:p.Lys1377Ter
ENST00000505350.2:c.*4081A>T	ENSP00000481752.1:n.*4081A>T
ENST00000507379.6:c.4021A>T	ENSP00000423224.2:p.Lys1341Ter
ENST00000509732.6:c.4075A>T	ENSP00000426541.2:p.Lys1359Ter
ENST00000512211.7:c.4075A>T	ENSP00000423828.3:p.Lys1359Ter
ENST00000257430.9:c.4075A>T MANE Select	ENSP00000257430.4:p.Lys1359Ter
ENST00000257430.8:c.4075A>T	ENSP00000257430.4:p.Lys1359Ter
ENST00000502371.2:c.2428A>T
ENST00000508376.6:c.4075A>T	ENSP00000427089.2:p.Lys1359Ter
ENST00000508624.5:c.*3397A>T	ENSP00000424265.1:n.*3397A>T
ENST00000520401.1:c.230+10697A>T
NM_000038.5:c.4075A>T	NP_000029.2:p.Lys1359Ter
NM_001127510.2:c.4075A>T	NP_001120982.1:p.Lys1359Ter
NM_001127511.2:c.4021A>T	NP_001120983.2:p.Lys1341Ter
NM_001354895.1:c.4075A>T	NP_001341824.1:p.Lys1359Ter
NM_001354896.1:c.4129A>T	NP_001341825.1:p.Lys1377Ter
NM_001354897.1:c.4105A>T	NP_001341826.1:p.Lys1369Ter
NM_001354898.1:c.4000A>T	NP_001341827.1:p.Lys1334Ter
NM_001354899.1:c.3991A>T	NP_001341828.1:p.Lys1331Ter
NM_001354900.1:c.3952A>T	NP_001341829.1:p.Lys1318Ter
NM_001354901.1:c.3898A>T	NP_001341830.1:p.Lys1300Ter
NM_001354902.1:c.3802A>T	NP_001341831.1:p.Lys1268Ter
NM_001354903.1:c.3772A>T	NP_001341832.1:p.Lys1258Ter
NM_001354904.1:c.3697A>T	NP_001341833.1:p.Lys1233Ter
NM_001354905.1:c.3595A>T	NP_001341834.1:p.Lys1199Ter
NM_001354906.1:c.3226A>T	NP_001341835.1:p.Lys1076Ter
NM_000038.6:c.4075A>T MANE Select	NP_000029.2:p.Lys1359Ter
NM_001127510.3:c.4075A>T	NP_001120982.1:p.Lys1359Ter
NM_001127511.3:c.4021A>T	NP_001120983.2:p.Lys1341Ter
NM_001354895.2:c.4075A>T	NP_001341824.1:p.Lys1359Ter
NM_001354896.2:c.4129A>T	NP_001341825.1:p.Lys1377Ter
NM_001354897.2:c.4105A>T	NP_001341826.1:p.Lys1369Ter
NM_001354898.2:c.4000A>T	NP_001341827.1:p.Lys1334Ter
NM_001354899.2:c.3991A>T	NP_001341828.1:p.Lys1331Ter
NM_001354900.2:c.3952A>T	NP_001341829.1:p.Lys1318Ter
NM_001354901.2:c.3898A>T	NP_001341830.1:p.Lys1300Ter
NM_001354902.2:c.3802A>T	NP_001341831.1:p.Lys1268Ter
NM_001354903.2:c.3772A>T	NP_001341832.1:p.Lys1258Ter
NM_001354904.2:c.3697A>T	NP_001341833.1:p.Lys1233Ter
NM_001354905.2:c.3595A>T	NP_001341834.1:p.Lys1199Ter
NM_001354906.2:c.3226A>T	NP_001341835.1:p.Lys1076Ter