Canonical Allele Identifier: CA16032439

Gene: APC

Linked Data

• ClinVar Variation Id: 1391393
• ClinVar RCV Id: RCV003772694
• dbSNP Id: rs1580656018
• MyVariant Identifiers: chr5:g.112176371G>T (hg19) ; chr5:g.112840674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840674G>T , CM000667.2:g.112840674G>T	GRCh38
NC_000005.9:g.112176371G>T , CM000667.1:g.112176371G>T	GRCh37
NC_000005.8:g.112204270G>T	NCBI36
NG_008481.4:g.153154G>T , LRG_130:g.153154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5134G>T	ENSP00000473355.2:p.Gly1712Cys
ENST00000505350.2:c.*5086G>T	ENSP00000481752.1:n.*5086G>T
ENST00000507379.6:c.5026G>T	ENSP00000423224.2:p.Gly1676Cys
ENST00000509732.6:c.5080G>T	ENSP00000426541.2:p.Gly1694Cys
ENST00000512211.7:c.5080G>T	ENSP00000423828.3:p.Gly1694Cys
ENST00000257430.9:c.5080G>T MANE Select	ENSP00000257430.4:p.Gly1694Cys
ENST00000257430.8:c.5080G>T	ENSP00000257430.4:p.Gly1694Cys
ENST00000508376.6:c.5080G>T	ENSP00000427089.2:p.Gly1694Cys
ENST00000508624.5:c.*4402G>T	ENSP00000424265.1:n.*4402G>T
ENST00000520401.1:c.230+11702G>T
NM_000038.5:c.5080G>T	NP_000029.2:p.Gly1694Cys
NM_001127510.2:c.5080G>T	NP_001120982.1:p.Gly1694Cys
NM_001127511.2:c.5026G>T	NP_001120983.2:p.Gly1676Cys
NM_001354895.1:c.5080G>T	NP_001341824.1:p.Gly1694Cys
NM_001354896.1:c.5134G>T	NP_001341825.1:p.Gly1712Cys
NM_001354897.1:c.5110G>T	NP_001341826.1:p.Gly1704Cys
NM_001354898.1:c.5005G>T	NP_001341827.1:p.Gly1669Cys
NM_001354899.1:c.4996G>T	NP_001341828.1:p.Gly1666Cys
NM_001354900.1:c.4957G>T	NP_001341829.1:p.Gly1653Cys
NM_001354901.1:c.4903G>T	NP_001341830.1:p.Gly1635Cys
NM_001354902.1:c.4807G>T	NP_001341831.1:p.Gly1603Cys
NM_001354903.1:c.4777G>T	NP_001341832.1:p.Gly1593Cys
NM_001354904.1:c.4702G>T	NP_001341833.1:p.Gly1568Cys
NM_001354905.1:c.4600G>T	NP_001341834.1:p.Gly1534Cys
NM_001354906.1:c.4231G>T	NP_001341835.1:p.Gly1411Cys
NM_000038.6:c.5080G>T MANE Select	NP_000029.2:p.Gly1694Cys
NM_001127510.3:c.5080G>T	NP_001120982.1:p.Gly1694Cys
NM_001127511.3:c.5026G>T	NP_001120983.2:p.Gly1676Cys
NM_001354895.2:c.5080G>T	NP_001341824.1:p.Gly1694Cys
NM_001354896.2:c.5134G>T	NP_001341825.1:p.Gly1712Cys
NM_001354897.2:c.5110G>T	NP_001341826.1:p.Gly1704Cys
NM_001354898.2:c.5005G>T	NP_001341827.1:p.Gly1669Cys
NM_001354899.2:c.4996G>T	NP_001341828.1:p.Gly1666Cys
NM_001354900.2:c.4957G>T	NP_001341829.1:p.Gly1653Cys
NM_001354901.2:c.4903G>T	NP_001341830.1:p.Gly1635Cys
NM_001354902.2:c.4807G>T	NP_001341831.1:p.Gly1603Cys
NM_001354903.2:c.4777G>T	NP_001341832.1:p.Gly1593Cys
NM_001354904.2:c.4702G>T	NP_001341833.1:p.Gly1568Cys
NM_001354905.2:c.4600G>T	NP_001341834.1:p.Gly1534Cys
NM_001354906.2:c.4231G>T	NP_001341835.1:p.Gly1411Cys