Canonical Allele Identifier: CA16031856

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112176093T>G (hg19) ; chr5:g.112840396T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840396T>G , CM000667.2:g.112840396T>G	GRCh38
NC_000005.9:g.112176093T>G , CM000667.1:g.112176093T>G	GRCh37
NC_000005.8:g.112203992T>G	NCBI36
NG_008481.4:g.152876T>G , LRG_130:g.152876T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4856T>G	ENSP00000473355.2:p.Leu1619Ter
ENST00000505350.2:c.*4808T>G	ENSP00000481752.1:n.*4808T>G
ENST00000507379.6:c.4748T>G	ENSP00000423224.2:p.Leu1583Ter
ENST00000509732.6:c.4802T>G	ENSP00000426541.2:p.Leu1601Ter
ENST00000512211.7:c.4802T>G	ENSP00000423828.3:p.Leu1601Ter
ENST00000257430.9:c.4802T>G MANE Select	ENSP00000257430.4:p.Leu1601Ter
ENST00000257430.8:c.4802T>G	ENSP00000257430.4:p.Leu1601Ter
ENST00000508376.6:c.4802T>G	ENSP00000427089.2:p.Leu1601Ter
ENST00000508624.5:c.*4124T>G	ENSP00000424265.1:n.*4124T>G
ENST00000520401.1:c.230+11424T>G
NM_000038.5:c.4802T>G	NP_000029.2:p.Leu1601Ter
NM_001127510.2:c.4802T>G	NP_001120982.1:p.Leu1601Ter
NM_001127511.2:c.4748T>G	NP_001120983.2:p.Leu1583Ter
NM_001354895.1:c.4802T>G	NP_001341824.1:p.Leu1601Ter
NM_001354896.1:c.4856T>G	NP_001341825.1:p.Leu1619Ter
NM_001354897.1:c.4832T>G	NP_001341826.1:p.Leu1611Ter
NM_001354898.1:c.4727T>G	NP_001341827.1:p.Leu1576Ter
NM_001354899.1:c.4718T>G	NP_001341828.1:p.Leu1573Ter
NM_001354900.1:c.4679T>G	NP_001341829.1:p.Leu1560Ter
NM_001354901.1:c.4625T>G	NP_001341830.1:p.Leu1542Ter
NM_001354902.1:c.4529T>G	NP_001341831.1:p.Leu1510Ter
NM_001354903.1:c.4499T>G	NP_001341832.1:p.Leu1500Ter
NM_001354904.1:c.4424T>G	NP_001341833.1:p.Leu1475Ter
NM_001354905.1:c.4322T>G	NP_001341834.1:p.Leu1441Ter
NM_001354906.1:c.3953T>G	NP_001341835.1:p.Leu1318Ter
NM_000038.6:c.4802T>G MANE Select	NP_000029.2:p.Leu1601Ter
NM_001127510.3:c.4802T>G	NP_001120982.1:p.Leu1601Ter
NM_001127511.3:c.4748T>G	NP_001120983.2:p.Leu1583Ter
NM_001354895.2:c.4802T>G	NP_001341824.1:p.Leu1601Ter
NM_001354896.2:c.4856T>G	NP_001341825.1:p.Leu1619Ter
NM_001354897.2:c.4832T>G	NP_001341826.1:p.Leu1611Ter
NM_001354898.2:c.4727T>G	NP_001341827.1:p.Leu1576Ter
NM_001354899.2:c.4718T>G	NP_001341828.1:p.Leu1573Ter
NM_001354900.2:c.4679T>G	NP_001341829.1:p.Leu1560Ter
NM_001354901.2:c.4625T>G	NP_001341830.1:p.Leu1542Ter
NM_001354902.2:c.4529T>G	NP_001341831.1:p.Leu1510Ter
NM_001354903.2:c.4499T>G	NP_001341832.1:p.Leu1500Ter
NM_001354904.2:c.4424T>G	NP_001341833.1:p.Leu1475Ter
NM_001354905.2:c.4322T>G	NP_001341834.1:p.Leu1441Ter
NM_001354906.2:c.3953T>G	NP_001341835.1:p.Leu1318Ter