Canonical Allele Identifier: CA16031343

Gene: APC

Linked Data

• dbSNP Id: rs2149917900
• MyVariant Identifiers: chr5:g.112175864A>C (hg19) ; chr5:g.112840167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840167A>C , CM000667.2:g.112840167A>C	GRCh38
NC_000005.9:g.112175864A>C , CM000667.1:g.112175864A>C	GRCh37
NC_000005.8:g.112203763A>C	NCBI36
NG_008481.4:g.152647A>C , LRG_130:g.152647A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4627A>C	ENSP00000473355.2:p.Met1543Leu
ENST00000505350.2:c.*4579A>C	ENSP00000481752.1:n.*4579A>C
ENST00000507379.6:c.4519A>C	ENSP00000423224.2:p.Met1507Leu
ENST00000509732.6:c.4573A>C	ENSP00000426541.2:p.Met1525Leu
ENST00000512211.7:c.4573A>C	ENSP00000423828.3:p.Met1525Leu
ENST00000257430.9:c.4573A>C MANE Select	ENSP00000257430.4:p.Met1525Leu
ENST00000257430.8:c.4573A>C	ENSP00000257430.4:p.Met1525Leu
ENST00000508376.6:c.4573A>C	ENSP00000427089.2:p.Met1525Leu
ENST00000508624.5:c.*3895A>C	ENSP00000424265.1:n.*3895A>C
ENST00000520401.1:c.230+11195A>C
NM_000038.5:c.4573A>C	NP_000029.2:p.Met1525Leu
NM_001127510.2:c.4573A>C	NP_001120982.1:p.Met1525Leu
NM_001127511.2:c.4519A>C	NP_001120983.2:p.Met1507Leu
NM_001354895.1:c.4573A>C	NP_001341824.1:p.Met1525Leu
NM_001354896.1:c.4627A>C	NP_001341825.1:p.Met1543Leu
NM_001354897.1:c.4603A>C	NP_001341826.1:p.Met1535Leu
NM_001354898.1:c.4498A>C	NP_001341827.1:p.Met1500Leu
NM_001354899.1:c.4489A>C	NP_001341828.1:p.Met1497Leu
NM_001354900.1:c.4450A>C	NP_001341829.1:p.Met1484Leu
NM_001354901.1:c.4396A>C	NP_001341830.1:p.Met1466Leu
NM_001354902.1:c.4300A>C	NP_001341831.1:p.Met1434Leu
NM_001354903.1:c.4270A>C	NP_001341832.1:p.Met1424Leu
NM_001354904.1:c.4195A>C	NP_001341833.1:p.Met1399Leu
NM_001354905.1:c.4093A>C	NP_001341834.1:p.Met1365Leu
NM_001354906.1:c.3724A>C	NP_001341835.1:p.Met1242Leu
NM_000038.6:c.4573A>C MANE Select	NP_000029.2:p.Met1525Leu
NM_001127510.3:c.4573A>C	NP_001120982.1:p.Met1525Leu
NM_001127511.3:c.4519A>C	NP_001120983.2:p.Met1507Leu
NM_001354895.2:c.4573A>C	NP_001341824.1:p.Met1525Leu
NM_001354896.2:c.4627A>C	NP_001341825.1:p.Met1543Leu
NM_001354897.2:c.4603A>C	NP_001341826.1:p.Met1535Leu
NM_001354898.2:c.4498A>C	NP_001341827.1:p.Met1500Leu
NM_001354899.2:c.4489A>C	NP_001341828.1:p.Met1497Leu
NM_001354900.2:c.4450A>C	NP_001341829.1:p.Met1484Leu
NM_001354901.2:c.4396A>C	NP_001341830.1:p.Met1466Leu
NM_001354902.2:c.4300A>C	NP_001341831.1:p.Met1434Leu
NM_001354903.2:c.4270A>C	NP_001341832.1:p.Met1424Leu
NM_001354904.2:c.4195A>C	NP_001341833.1:p.Met1399Leu
NM_001354905.2:c.4093A>C	NP_001341834.1:p.Met1365Leu
NM_001354906.2:c.3724A>C	NP_001341835.1:p.Met1242Leu