Canonical Allele Identifier: CA16029901

Gene: APC

Linked Data

• ClinVar Variation Id: 1736057
• ClinVar RCV Id: RCV002357483
• dbSNP Id: rs2149901724
• MyVariant Identifiers: chr5:g.112175196T>C (hg19) ; chr5:g.112839499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839499T>C , CM000667.2:g.112839499T>C	GRCh38
NC_000005.9:g.112175196T>C , CM000667.1:g.112175196T>C	GRCh37
NC_000005.8:g.112203095T>C	NCBI36
NG_008481.4:g.151979T>C , LRG_130:g.151979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3570T>C	ENSP00000484935.2:n.3570T>C
ENST00000504915.3:c.3959T>C	ENSP00000473355.2:p.Leu1320Pro
ENST00000505350.2:c.*3911T>C	ENSP00000481752.1:n.*3911T>C
ENST00000507379.6:c.3851T>C	ENSP00000423224.2:p.Leu1284Pro
ENST00000509732.6:c.3905T>C	ENSP00000426541.2:p.Leu1302Pro
ENST00000512211.7:c.3905T>C	ENSP00000423828.3:p.Leu1302Pro
ENST00000257430.9:c.3905T>C MANE Select	ENSP00000257430.4:p.Leu1302Pro
ENST00000257430.8:c.3905T>C	ENSP00000257430.4:p.Leu1302Pro
ENST00000502371.2:c.2258T>C
ENST00000508376.6:c.3905T>C	ENSP00000427089.2:p.Leu1302Pro
ENST00000508624.5:c.*3227T>C	ENSP00000424265.1:n.*3227T>C
ENST00000512211.6:c.3905T>C	ENSP00000423828.2:p.Leu1302Pro
ENST00000520401.1:c.230+10527T>C
NM_000038.5:c.3905T>C	NP_000029.2:p.Leu1302Pro
NM_001127510.2:c.3905T>C	NP_001120982.1:p.Leu1302Pro
NM_001127511.2:c.3851T>C	NP_001120983.2:p.Leu1284Pro
NM_001354895.1:c.3905T>C	NP_001341824.1:p.Leu1302Pro
NM_001354896.1:c.3959T>C	NP_001341825.1:p.Leu1320Pro
NM_001354897.1:c.3935T>C	NP_001341826.1:p.Leu1312Pro
NM_001354898.1:c.3830T>C	NP_001341827.1:p.Leu1277Pro
NM_001354899.1:c.3821T>C	NP_001341828.1:p.Leu1274Pro
NM_001354900.1:c.3782T>C	NP_001341829.1:p.Leu1261Pro
NM_001354901.1:c.3728T>C	NP_001341830.1:p.Leu1243Pro
NM_001354902.1:c.3632T>C	NP_001341831.1:p.Leu1211Pro
NM_001354903.1:c.3602T>C	NP_001341832.1:p.Leu1201Pro
NM_001354904.1:c.3527T>C	NP_001341833.1:p.Leu1176Pro
NM_001354905.1:c.3425T>C	NP_001341834.1:p.Leu1142Pro
NM_001354906.1:c.3056T>C	NP_001341835.1:p.Leu1019Pro
NM_000038.6:c.3905T>C MANE Select	NP_000029.2:p.Leu1302Pro
NM_001127510.3:c.3905T>C	NP_001120982.1:p.Leu1302Pro
NM_001127511.3:c.3851T>C	NP_001120983.2:p.Leu1284Pro
NM_001354895.2:c.3905T>C	NP_001341824.1:p.Leu1302Pro
NM_001354896.2:c.3959T>C	NP_001341825.1:p.Leu1320Pro
NM_001354897.2:c.3935T>C	NP_001341826.1:p.Leu1312Pro
NM_001354898.2:c.3830T>C	NP_001341827.1:p.Leu1277Pro
NM_001354899.2:c.3821T>C	NP_001341828.1:p.Leu1274Pro
NM_001354900.2:c.3782T>C	NP_001341829.1:p.Leu1261Pro
NM_001354901.2:c.3728T>C	NP_001341830.1:p.Leu1243Pro
NM_001354902.2:c.3632T>C	NP_001341831.1:p.Leu1211Pro
NM_001354903.2:c.3602T>C	NP_001341832.1:p.Leu1201Pro
NM_001354904.2:c.3527T>C	NP_001341833.1:p.Leu1176Pro
NM_001354905.2:c.3425T>C	NP_001341834.1:p.Leu1142Pro
NM_001354906.2:c.3056T>C	NP_001341835.1:p.Leu1019Pro