Canonical Allele Identifier: CA16031764

Gene: APC

Linked Data

• dbSNP Id: rs1060504890
• MyVariant Identifiers: chr5:g.112176049G>C (hg19) ; chr5:g.112840352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840352G>C , CM000667.2:g.112840352G>C	GRCh38
NC_000005.9:g.112176049G>C , CM000667.1:g.112176049G>C	GRCh37
NC_000005.8:g.112203948G>C	NCBI36
NG_008481.4:g.152832G>C , LRG_130:g.152832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4812G>C	ENSP00000473355.2:p.Lys1604Asn
ENST00000505350.2:c.*4764G>C	ENSP00000481752.1:n.*4764G>C
ENST00000507379.6:c.4704G>C	ENSP00000423224.2:p.Lys1568Asn
ENST00000509732.6:c.4758G>C	ENSP00000426541.2:p.Lys1586Asn
ENST00000512211.7:c.4758G>C	ENSP00000423828.3:p.Lys1586Asn
ENST00000257430.9:c.4758G>C MANE Select	ENSP00000257430.4:p.Lys1586Asn
ENST00000257430.8:c.4758G>C	ENSP00000257430.4:p.Lys1586Asn
ENST00000508376.6:c.4758G>C	ENSP00000427089.2:p.Lys1586Asn
ENST00000508624.5:c.*4080G>C	ENSP00000424265.1:n.*4080G>C
ENST00000520401.1:c.230+11380G>C
NM_000038.5:c.4758G>C	NP_000029.2:p.Lys1586Asn
NM_001127510.2:c.4758G>C	NP_001120982.1:p.Lys1586Asn
NM_001127511.2:c.4704G>C	NP_001120983.2:p.Lys1568Asn
NM_001354895.1:c.4758G>C	NP_001341824.1:p.Lys1586Asn
NM_001354896.1:c.4812G>C	NP_001341825.1:p.Lys1604Asn
NM_001354897.1:c.4788G>C	NP_001341826.1:p.Lys1596Asn
NM_001354898.1:c.4683G>C	NP_001341827.1:p.Lys1561Asn
NM_001354899.1:c.4674G>C	NP_001341828.1:p.Lys1558Asn
NM_001354900.1:c.4635G>C	NP_001341829.1:p.Lys1545Asn
NM_001354901.1:c.4581G>C	NP_001341830.1:p.Lys1527Asn
NM_001354902.1:c.4485G>C	NP_001341831.1:p.Lys1495Asn
NM_001354903.1:c.4455G>C	NP_001341832.1:p.Lys1485Asn
NM_001354904.1:c.4380G>C	NP_001341833.1:p.Lys1460Asn
NM_001354905.1:c.4278G>C	NP_001341834.1:p.Lys1426Asn
NM_001354906.1:c.3909G>C	NP_001341835.1:p.Lys1303Asn
NM_000038.6:c.4758G>C MANE Select	NP_000029.2:p.Lys1586Asn
NM_001127510.3:c.4758G>C	NP_001120982.1:p.Lys1586Asn
NM_001127511.3:c.4704G>C	NP_001120983.2:p.Lys1568Asn
NM_001354895.2:c.4758G>C	NP_001341824.1:p.Lys1586Asn
NM_001354896.2:c.4812G>C	NP_001341825.1:p.Lys1604Asn
NM_001354897.2:c.4788G>C	NP_001341826.1:p.Lys1596Asn
NM_001354898.2:c.4683G>C	NP_001341827.1:p.Lys1561Asn
NM_001354899.2:c.4674G>C	NP_001341828.1:p.Lys1558Asn
NM_001354900.2:c.4635G>C	NP_001341829.1:p.Lys1545Asn
NM_001354901.2:c.4581G>C	NP_001341830.1:p.Lys1527Asn
NM_001354902.2:c.4485G>C	NP_001341831.1:p.Lys1495Asn
NM_001354903.2:c.4455G>C	NP_001341832.1:p.Lys1485Asn
NM_001354904.2:c.4380G>C	NP_001341833.1:p.Lys1460Asn
NM_001354905.2:c.4278G>C	NP_001341834.1:p.Lys1426Asn
NM_001354906.2:c.3909G>C	NP_001341835.1:p.Lys1303Asn