Canonical Allele Identifier: CA16038010

Gene: APC

Linked Data

• gnomAD v4: 5-112843273-G-T
• MyVariant Identifiers: chr5:g.112178970G>T (hg19) ; chr5:g.112843273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843273G>T , CM000667.2:g.112843273G>T	GRCh38
NC_000005.9:g.112178970G>T , CM000667.1:g.112178970G>T	GRCh37
NC_000005.8:g.112206869G>T	NCBI36
NG_008481.4:g.155753G>T , LRG_130:g.155753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7733G>T	ENSP00000473355.2:p.Arg2578Leu
ENST00000505350.2:c.*7685G>T	ENSP00000481752.1:n.*7685G>T
ENST00000507379.6:c.7625G>T	ENSP00000423224.2:p.Arg2542Leu
ENST00000509732.6:c.7679G>T	ENSP00000426541.2:p.Arg2560Leu
ENST00000512211.7:c.7679G>T	ENSP00000423828.3:p.Arg2560Leu
ENST00000257430.9:c.7679G>T MANE Select	ENSP00000257430.4:p.Arg2560Leu
ENST00000257430.8:c.7679G>T	ENSP00000257430.4:p.Arg2560Leu
ENST00000508376.6:c.7679G>T	ENSP00000427089.2:p.Arg2560Leu
ENST00000520401.1:c.231-13376G>T
NM_000038.5:c.7679G>T	NP_000029.2:p.Arg2560Leu
NM_001127510.2:c.7679G>T	NP_001120982.1:p.Arg2560Leu
NM_001127511.2:c.7625G>T	NP_001120983.2:p.Arg2542Leu
NM_001354895.1:c.7679G>T	NP_001341824.1:p.Arg2560Leu
NM_001354896.1:c.7733G>T	NP_001341825.1:p.Arg2578Leu
NM_001354897.1:c.7709G>T	NP_001341826.1:p.Arg2570Leu
NM_001354898.1:c.7604G>T	NP_001341827.1:p.Arg2535Leu
NM_001354899.1:c.7595G>T	NP_001341828.1:p.Arg2532Leu
NM_001354900.1:c.7556G>T	NP_001341829.1:p.Arg2519Leu
NM_001354901.1:c.7502G>T	NP_001341830.1:p.Arg2501Leu
NM_001354902.1:c.7406G>T	NP_001341831.1:p.Arg2469Leu
NM_001354903.1:c.7376G>T	NP_001341832.1:p.Arg2459Leu
NM_001354904.1:c.7301G>T	NP_001341833.1:p.Arg2434Leu
NM_001354905.1:c.7199G>T	NP_001341834.1:p.Arg2400Leu
NM_001354906.1:c.6830G>T	NP_001341835.1:p.Arg2277Leu
NM_000038.6:c.7679G>T MANE Select	NP_000029.2:p.Arg2560Leu
NM_001127510.3:c.7679G>T	NP_001120982.1:p.Arg2560Leu
NM_001127511.3:c.7625G>T	NP_001120983.2:p.Arg2542Leu
NM_001354895.2:c.7679G>T	NP_001341824.1:p.Arg2560Leu
NM_001354896.2:c.7733G>T	NP_001341825.1:p.Arg2578Leu
NM_001354897.2:c.7709G>T	NP_001341826.1:p.Arg2570Leu
NM_001354898.2:c.7604G>T	NP_001341827.1:p.Arg2535Leu
NM_001354899.2:c.7595G>T	NP_001341828.1:p.Arg2532Leu
NM_001354900.2:c.7556G>T	NP_001341829.1:p.Arg2519Leu
NM_001354901.2:c.7502G>T	NP_001341830.1:p.Arg2501Leu
NM_001354902.2:c.7406G>T	NP_001341831.1:p.Arg2469Leu
NM_001354903.2:c.7376G>T	NP_001341832.1:p.Arg2459Leu
NM_001354904.2:c.7301G>T	NP_001341833.1:p.Arg2434Leu
NM_001354905.2:c.7199G>T	NP_001341834.1:p.Arg2400Leu
NM_001354906.2:c.6830G>T	NP_001341835.1:p.Arg2277Leu