Canonical Allele Identifier: CA16036865

Gene: APC

Linked Data

• ClinVar Variation Id: 1506415
• ClinVar RCV Id: RCV003773379
• dbSNP Id: rs587782711
• MyVariant Identifiers: chr5:g.112178423C>A (hg19) ; chr5:g.112842726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842726C>A , CM000667.2:g.112842726C>A	GRCh38
NC_000005.9:g.112178423C>A , CM000667.1:g.112178423C>A	GRCh37
NC_000005.8:g.112206322C>A	NCBI36
NG_008481.4:g.155206C>A , LRG_130:g.155206C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7186C>A	ENSP00000473355.2:p.Leu2396Ile
ENST00000505350.2:c.*7138C>A	ENSP00000481752.1:n.*7138C>A
ENST00000507379.6:c.7078C>A	ENSP00000423224.2:p.Leu2360Ile
ENST00000509732.6:c.7132C>A	ENSP00000426541.2:p.Leu2378Ile
ENST00000512211.7:c.7132C>A	ENSP00000423828.3:p.Leu2378Ile
ENST00000257430.9:c.7132C>A MANE Select	ENSP00000257430.4:p.Leu2378Ile
ENST00000257430.8:c.7132C>A	ENSP00000257430.4:p.Leu2378Ile
ENST00000508376.6:c.7132C>A	ENSP00000427089.2:p.Leu2378Ile
ENST00000508624.5:c.*6454C>A	ENSP00000424265.1:n.*6454C>A
ENST00000520401.1:c.230+13754C>A
NM_000038.5:c.7132C>A	NP_000029.2:p.Leu2378Ile
NM_001127510.2:c.7132C>A	NP_001120982.1:p.Leu2378Ile
NM_001127511.2:c.7078C>A	NP_001120983.2:p.Leu2360Ile
NM_001354895.1:c.7132C>A	NP_001341824.1:p.Leu2378Ile
NM_001354896.1:c.7186C>A	NP_001341825.1:p.Leu2396Ile
NM_001354897.1:c.7162C>A	NP_001341826.1:p.Leu2388Ile
NM_001354898.1:c.7057C>A	NP_001341827.1:p.Leu2353Ile
NM_001354899.1:c.7048C>A	NP_001341828.1:p.Leu2350Ile
NM_001354900.1:c.7009C>A	NP_001341829.1:p.Leu2337Ile
NM_001354901.1:c.6955C>A	NP_001341830.1:p.Leu2319Ile
NM_001354902.1:c.6859C>A	NP_001341831.1:p.Leu2287Ile
NM_001354903.1:c.6829C>A	NP_001341832.1:p.Leu2277Ile
NM_001354904.1:c.6754C>A	NP_001341833.1:p.Leu2252Ile
NM_001354905.1:c.6652C>A	NP_001341834.1:p.Leu2218Ile
NM_001354906.1:c.6283C>A	NP_001341835.1:p.Leu2095Ile
NM_000038.6:c.7132C>A MANE Select	NP_000029.2:p.Leu2378Ile
NM_001127510.3:c.7132C>A	NP_001120982.1:p.Leu2378Ile
NM_001127511.3:c.7078C>A	NP_001120983.2:p.Leu2360Ile
NM_001354895.2:c.7132C>A	NP_001341824.1:p.Leu2378Ile
NM_001354896.2:c.7186C>A	NP_001341825.1:p.Leu2396Ile
NM_001354897.2:c.7162C>A	NP_001341826.1:p.Leu2388Ile
NM_001354898.2:c.7057C>A	NP_001341827.1:p.Leu2353Ile
NM_001354899.2:c.7048C>A	NP_001341828.1:p.Leu2350Ile
NM_001354900.2:c.7009C>A	NP_001341829.1:p.Leu2337Ile
NM_001354901.2:c.6955C>A	NP_001341830.1:p.Leu2319Ile
NM_001354902.2:c.6859C>A	NP_001341831.1:p.Leu2287Ile
NM_001354903.2:c.6829C>A	NP_001341832.1:p.Leu2277Ile
NM_001354904.2:c.6754C>A	NP_001341833.1:p.Leu2252Ile
NM_001354905.2:c.6652C>A	NP_001341834.1:p.Leu2218Ile
NM_001354906.2:c.6283C>A	NP_001341835.1:p.Leu2095Ile