Canonical Allele Identifier: CA16024250

Gene: APC

Linked Data

• ClinVar Variation Id: 1770469
• ClinVar RCV Id: RCV002387817
• dbSNP Id: rs758535166
• MyVariant Identifiers: chr5:g.112157625G>T (hg19) ; chr5:g.112821928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821928G>T , CM000667.2:g.112821928G>T	GRCh38
NC_000005.9:g.112157625G>T , CM000667.1:g.112157625G>T	GRCh37
NC_000005.8:g.112185524G>T	NCBI36
NG_008481.4:g.134408G>T , LRG_130:g.134408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1345G>T	ENSP00000484935.2:p.Ala449Ser
ENST00000504915.3:c.1345G>T	ENSP00000473355.2:p.Ala449Ser
ENST00000505084.2:n.1401G>T
ENST00000505350.2:c.*1351G>T	ENSP00000481752.1:n.*1351G>T
ENST00000507379.6:c.1291G>T	ENSP00000423224.2:p.Ala431Ser
ENST00000509732.6:c.1345G>T	ENSP00000426541.2:p.Ala449Ser
ENST00000512211.7:c.1345G>T	ENSP00000423828.3:p.Ala449Ser
ENST00000257430.9:c.1345G>T MANE Select	ENSP00000257430.4:p.Ala449Ser
ENST00000257430.8:c.1345G>T	ENSP00000257430.4:p.Ala449Ser
ENST00000502371.2:c.33G>T
ENST00000507379.5:c.1291G>T	ENSP00000423224.1:p.Ala431Ser
ENST00000508376.6:c.1345G>T	ENSP00000427089.2:p.Ala449Ser
ENST00000508624.5:c.*667G>T	ENSP00000424265.1:n.*667G>T
ENST00000512211.6:c.1345G>T	ENSP00000423828.2:p.Ala449Ser
NM_000038.5:c.1345G>T	NP_000029.2:p.Ala449Ser
NM_001127510.2:c.1345G>T	NP_001120982.1:p.Ala449Ser
NM_001127511.2:c.1291G>T	NP_001120983.2:p.Ala431Ser
NM_001354895.1:c.1345G>T	NP_001341824.1:p.Ala449Ser
NM_001354896.1:c.1345G>T	NP_001341825.1:p.Ala449Ser
NM_001354897.1:c.1375G>T	NP_001341826.1:p.Ala459Ser
NM_001354898.1:c.1270G>T	NP_001341827.1:p.Ala424Ser
NM_001354899.1:c.1261G>T	NP_001341828.1:p.Ala421Ser
NM_001354900.1:c.1168G>T	NP_001341829.1:p.Ala390Ser
NM_001354901.1:c.1168G>T	NP_001341830.1:p.Ala390Ser
NM_001354902.1:c.1072G>T	NP_001341831.1:p.Ala358Ser
NM_001354903.1:c.1042G>T	NP_001341832.1:p.Ala348Ser
NM_001354904.1:c.967G>T	NP_001341833.1:p.Ala323Ser
NM_001354905.1:c.865G>T	NP_001341834.1:p.Ala289Ser
NM_001354906.1:c.496G>T	NP_001341835.1:p.Ala166Ser
NM_000038.6:c.1345G>T MANE Select	NP_000029.2:p.Ala449Ser
NM_001127510.3:c.1345G>T	NP_001120982.1:p.Ala449Ser
NM_001127511.3:c.1291G>T	NP_001120983.2:p.Ala431Ser
NM_001354895.2:c.1345G>T	NP_001341824.1:p.Ala449Ser
NM_001354896.2:c.1345G>T	NP_001341825.1:p.Ala449Ser
NM_001354897.2:c.1375G>T	NP_001341826.1:p.Ala459Ser
NM_001354898.2:c.1270G>T	NP_001341827.1:p.Ala424Ser
NM_001354899.2:c.1261G>T	NP_001341828.1:p.Ala421Ser
NM_001354900.2:c.1168G>T	NP_001341829.1:p.Ala390Ser
NM_001354901.2:c.1168G>T	NP_001341830.1:p.Ala390Ser
NM_001354902.2:c.1072G>T	NP_001341831.1:p.Ala358Ser
NM_001354903.2:c.1042G>T	NP_001341832.1:p.Ala348Ser
NM_001354904.2:c.967G>T	NP_001341833.1:p.Ala323Ser
NM_001354905.2:c.865G>T	NP_001341834.1:p.Ala289Ser
NM_001354906.2:c.496G>T	NP_001341835.1:p.Ala166Ser