Canonical Allele Identifier: CA033918

Gene: APC

Linked Data

• ClinVar Variation Id: 568446
• ClinVar RCV Id: RCV003303117 ; RCV003534575
• dbSNP Id: rs750556498
• ExAC: 5:112174205 G / A
• gnomAD v2: 5-112174205-G-A
• gnomAD v4: 5-112838508-G-A
• MyVariant Identifiers: chr5:g.112174205G>A (hg19) ; chr5:g.112838508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838508G>A , CM000667.2:g.112838508G>A	GRCh38
NC_000005.9:g.112174205G>A , CM000667.1:g.112174205G>A	GRCh37
NC_000005.8:g.112202104G>A	NCBI36
NG_008481.4:g.150988G>A , LRG_130:g.150988G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2579G>A	ENSP00000484935.2:n.2579G>A
ENST00000504915.3:c.2968G>A	ENSP00000473355.2:p.Gly990Ser
ENST00000505350.2:c.*2920G>A	ENSP00000481752.1:n.*2920G>A
ENST00000507379.6:c.2860G>A	ENSP00000423224.2:p.Gly954Ser
ENST00000509732.6:c.2914G>A	ENSP00000426541.2:p.Gly972Ser
ENST00000512211.7:c.2914G>A	ENSP00000423828.3:p.Gly972Ser
ENST00000257430.9:c.2914G>A MANE Select	ENSP00000257430.4:p.Gly972Ser
ENST00000257430.8:c.2914G>A	ENSP00000257430.4:p.Gly972Ser
ENST00000502371.2:c.1267G>A
ENST00000507379.5:c.2860G>A	ENSP00000423224.1:p.Gly954Ser
ENST00000508376.6:c.2914G>A	ENSP00000427089.2:p.Gly972Ser
ENST00000508624.5:c.*2236G>A	ENSP00000424265.1:n.*2236G>A
ENST00000512211.6:c.2914G>A	ENSP00000423828.2:p.Gly972Ser
ENST00000520401.1:c.230+9536G>A
NM_000038.5:c.2914G>A	NP_000029.2:p.Gly972Ser
NM_001127510.2:c.2914G>A	NP_001120982.1:p.Gly972Ser
NM_001127511.2:c.2860G>A	NP_001120983.2:p.Gly954Ser
NM_001354895.1:c.2914G>A	NP_001341824.1:p.Gly972Ser
NM_001354896.1:c.2968G>A	NP_001341825.1:p.Gly990Ser
NM_001354897.1:c.2944G>A	NP_001341826.1:p.Gly982Ser
NM_001354898.1:c.2839G>A	NP_001341827.1:p.Gly947Ser
NM_001354899.1:c.2830G>A	NP_001341828.1:p.Gly944Ser
NM_001354900.1:c.2791G>A	NP_001341829.1:p.Gly931Ser
NM_001354901.1:c.2737G>A	NP_001341830.1:p.Gly913Ser
NM_001354902.1:c.2641G>A	NP_001341831.1:p.Gly881Ser
NM_001354903.1:c.2611G>A	NP_001341832.1:p.Gly871Ser
NM_001354904.1:c.2536G>A	NP_001341833.1:p.Gly846Ser
NM_001354905.1:c.2434G>A	NP_001341834.1:p.Gly812Ser
NM_001354906.1:c.2065G>A	NP_001341835.1:p.Gly689Ser
NM_000038.6:c.2914G>A MANE Select	NP_000029.2:p.Gly972Ser
NM_001127510.3:c.2914G>A	NP_001120982.1:p.Gly972Ser
NM_001127511.3:c.2860G>A	NP_001120983.2:p.Gly954Ser
NM_001354895.2:c.2914G>A	NP_001341824.1:p.Gly972Ser
NM_001354896.2:c.2968G>A	NP_001341825.1:p.Gly990Ser
NM_001354897.2:c.2944G>A	NP_001341826.1:p.Gly982Ser
NM_001354898.2:c.2839G>A	NP_001341827.1:p.Gly947Ser
NM_001354899.2:c.2830G>A	NP_001341828.1:p.Gly944Ser
NM_001354900.2:c.2791G>A	NP_001341829.1:p.Gly931Ser
NM_001354901.2:c.2737G>A	NP_001341830.1:p.Gly913Ser
NM_001354902.2:c.2641G>A	NP_001341831.1:p.Gly881Ser
NM_001354903.2:c.2611G>A	NP_001341832.1:p.Gly871Ser
NM_001354904.2:c.2536G>A	NP_001341833.1:p.Gly846Ser
NM_001354905.2:c.2434G>A	NP_001341834.1:p.Gly812Ser
NM_001354906.2:c.2065G>A	NP_001341835.1:p.Gly689Ser