Canonical Allele Identifier: CA16038597

Gene: APC

Linked Data

• ClinVar Variation Id: 620612
• ClinVar RCV Id: RCV000761072
• dbSNP Id: rs1561619590
• gnomAD v4: 5-112843545-G-C
• MyVariant Identifiers: chr5:g.112179242G>C (hg19) ; chr5:g.112843545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843545G>C , CM000667.2:g.112843545G>C	GRCh38
NC_000005.9:g.112179242G>C , CM000667.1:g.112179242G>C	GRCh37
NC_000005.8:g.112207141G>C	NCBI36
NG_008481.4:g.156025G>C , LRG_130:g.156025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8005G>C	ENSP00000473355.2:p.Val2669Leu
ENST00000505350.2:c.*7957G>C	ENSP00000481752.1:n.*7957G>C
ENST00000507379.6:c.7897G>C	ENSP00000423224.2:p.Val2633Leu
ENST00000509732.6:c.7951G>C	ENSP00000426541.2:p.Val2651Leu
ENST00000512211.7:c.7951G>C	ENSP00000423828.3:p.Val2651Leu
ENST00000257430.9:c.7951G>C MANE Select	ENSP00000257430.4:p.Val2651Leu
ENST00000257430.8:c.7951G>C	ENSP00000257430.4:p.Val2651Leu
ENST00000508376.6:c.7951G>C	ENSP00000427089.2:p.Val2651Leu
ENST00000520401.1:c.231-13104G>C
NM_000038.5:c.7951G>C	NP_000029.2:p.Val2651Leu
NM_001127510.2:c.7951G>C	NP_001120982.1:p.Val2651Leu
NM_001127511.2:c.7897G>C	NP_001120983.2:p.Val2633Leu
NM_001354895.1:c.7951G>C	NP_001341824.1:p.Val2651Leu
NM_001354896.1:c.8005G>C	NP_001341825.1:p.Val2669Leu
NM_001354897.1:c.7981G>C	NP_001341826.1:p.Val2661Leu
NM_001354898.1:c.7876G>C	NP_001341827.1:p.Val2626Leu
NM_001354899.1:c.7867G>C	NP_001341828.1:p.Val2623Leu
NM_001354900.1:c.7828G>C	NP_001341829.1:p.Val2610Leu
NM_001354901.1:c.7774G>C	NP_001341830.1:p.Val2592Leu
NM_001354902.1:c.7678G>C	NP_001341831.1:p.Val2560Leu
NM_001354903.1:c.7648G>C	NP_001341832.1:p.Val2550Leu
NM_001354904.1:c.7573G>C	NP_001341833.1:p.Val2525Leu
NM_001354905.1:c.7471G>C	NP_001341834.1:p.Val2491Leu
NM_001354906.1:c.7102G>C	NP_001341835.1:p.Val2368Leu
NM_000038.6:c.7951G>C MANE Select	NP_000029.2:p.Val2651Leu
NM_001127510.3:c.7951G>C	NP_001120982.1:p.Val2651Leu
NM_001127511.3:c.7897G>C	NP_001120983.2:p.Val2633Leu
NM_001354895.2:c.7951G>C	NP_001341824.1:p.Val2651Leu
NM_001354896.2:c.8005G>C	NP_001341825.1:p.Val2669Leu
NM_001354897.2:c.7981G>C	NP_001341826.1:p.Val2661Leu
NM_001354898.2:c.7876G>C	NP_001341827.1:p.Val2626Leu
NM_001354899.2:c.7867G>C	NP_001341828.1:p.Val2623Leu
NM_001354900.2:c.7828G>C	NP_001341829.1:p.Val2610Leu
NM_001354901.2:c.7774G>C	NP_001341830.1:p.Val2592Leu
NM_001354902.2:c.7678G>C	NP_001341831.1:p.Val2560Leu
NM_001354903.2:c.7648G>C	NP_001341832.1:p.Val2550Leu
NM_001354904.2:c.7573G>C	NP_001341833.1:p.Val2525Leu
NM_001354905.2:c.7471G>C	NP_001341834.1:p.Val2491Leu
NM_001354906.2:c.7102G>C	NP_001341835.1:p.Val2368Leu