Canonical Allele Identifier: CA16038277

Gene: APC

Linked Data

• ClinVar Variation Id: 490364
• ClinVar RCV Id: RCV000584158 ; RCV003538380
• dbSNP Id: rs1554088668
• gnomAD v4: 5-112843396-G-A
• MyVariant Identifiers: chr5:g.112179093G>A (hg19) ; chr5:g.112843396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843396G>A , CM000667.2:g.112843396G>A	GRCh38
NC_000005.9:g.112179093G>A , CM000667.1:g.112179093G>A	GRCh37
NC_000005.8:g.112206992G>A	NCBI36
NG_008481.4:g.155876G>A , LRG_130:g.155876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7856G>A	ENSP00000473355.2:p.Ser2619Asn
ENST00000505350.2:c.*7808G>A	ENSP00000481752.1:n.*7808G>A
ENST00000507379.6:c.7748G>A	ENSP00000423224.2:p.Ser2583Asn
ENST00000509732.6:c.7802G>A	ENSP00000426541.2:p.Ser2601Asn
ENST00000512211.7:c.7802G>A	ENSP00000423828.3:p.Ser2601Asn
ENST00000257430.9:c.7802G>A MANE Select	ENSP00000257430.4:p.Ser2601Asn
ENST00000257430.8:c.7802G>A	ENSP00000257430.4:p.Ser2601Asn
ENST00000508376.6:c.7802G>A	ENSP00000427089.2:p.Ser2601Asn
ENST00000520401.1:c.231-13253G>A
NM_000038.5:c.7802G>A	NP_000029.2:p.Ser2601Asn
NM_001127510.2:c.7802G>A	NP_001120982.1:p.Ser2601Asn
NM_001127511.2:c.7748G>A	NP_001120983.2:p.Ser2583Asn
NM_001354895.1:c.7802G>A	NP_001341824.1:p.Ser2601Asn
NM_001354896.1:c.7856G>A	NP_001341825.1:p.Ser2619Asn
NM_001354897.1:c.7832G>A	NP_001341826.1:p.Ser2611Asn
NM_001354898.1:c.7727G>A	NP_001341827.1:p.Ser2576Asn
NM_001354899.1:c.7718G>A	NP_001341828.1:p.Ser2573Asn
NM_001354900.1:c.7679G>A	NP_001341829.1:p.Ser2560Asn
NM_001354901.1:c.7625G>A	NP_001341830.1:p.Ser2542Asn
NM_001354902.1:c.7529G>A	NP_001341831.1:p.Ser2510Asn
NM_001354903.1:c.7499G>A	NP_001341832.1:p.Ser2500Asn
NM_001354904.1:c.7424G>A	NP_001341833.1:p.Ser2475Asn
NM_001354905.1:c.7322G>A	NP_001341834.1:p.Ser2441Asn
NM_001354906.1:c.6953G>A	NP_001341835.1:p.Ser2318Asn
NM_000038.6:c.7802G>A MANE Select	NP_000029.2:p.Ser2601Asn
NM_001127510.3:c.7802G>A	NP_001120982.1:p.Ser2601Asn
NM_001127511.3:c.7748G>A	NP_001120983.2:p.Ser2583Asn
NM_001354895.2:c.7802G>A	NP_001341824.1:p.Ser2601Asn
NM_001354896.2:c.7856G>A	NP_001341825.1:p.Ser2619Asn
NM_001354897.2:c.7832G>A	NP_001341826.1:p.Ser2611Asn
NM_001354898.2:c.7727G>A	NP_001341827.1:p.Ser2576Asn
NM_001354899.2:c.7718G>A	NP_001341828.1:p.Ser2573Asn
NM_001354900.2:c.7679G>A	NP_001341829.1:p.Ser2560Asn
NM_001354901.2:c.7625G>A	NP_001341830.1:p.Ser2542Asn
NM_001354902.2:c.7529G>A	NP_001341831.1:p.Ser2510Asn
NM_001354903.2:c.7499G>A	NP_001341832.1:p.Ser2500Asn
NM_001354904.2:c.7424G>A	NP_001341833.1:p.Ser2475Asn
NM_001354905.2:c.7322G>A	NP_001341834.1:p.Ser2441Asn
NM_001354906.2:c.6953G>A	NP_001341835.1:p.Ser2318Asn