Canonical Allele Identifier: CA16028758

Gene: APC

Linked Data

• dbSNP Id: rs2149890928
• MyVariant Identifiers: chr5:g.112174680G>T (hg19) ; chr5:g.112838983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838983G>T , CM000667.2:g.112838983G>T	GRCh38
NC_000005.9:g.112174680G>T , CM000667.1:g.112174680G>T	GRCh37
NC_000005.8:g.112202579G>T	NCBI36
NG_008481.4:g.151463G>T , LRG_130:g.151463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3054G>T	ENSP00000484935.2:n.3054G>T
ENST00000504915.3:c.3443G>T	ENSP00000473355.2:p.Cys1148Phe
ENST00000505350.2:c.*3395G>T	ENSP00000481752.1:n.*3395G>T
ENST00000507379.6:c.3335G>T	ENSP00000423224.2:p.Cys1112Phe
ENST00000509732.6:c.3389G>T	ENSP00000426541.2:p.Cys1130Phe
ENST00000512211.7:c.3389G>T	ENSP00000423828.3:p.Cys1130Phe
ENST00000257430.9:c.3389G>T MANE Select	ENSP00000257430.4:p.Cys1130Phe
ENST00000257430.8:c.3389G>T	ENSP00000257430.4:p.Cys1130Phe
ENST00000502371.2:c.1742G>T
ENST00000507379.5:c.3335G>T	ENSP00000423224.1:p.Cys1112Phe
ENST00000508376.6:c.3389G>T	ENSP00000427089.2:p.Cys1130Phe
ENST00000508624.5:c.*2711G>T	ENSP00000424265.1:n.*2711G>T
ENST00000512211.6:c.3389G>T	ENSP00000423828.2:p.Cys1130Phe
ENST00000520401.1:c.230+10011G>T
NM_000038.5:c.3389G>T	NP_000029.2:p.Cys1130Phe
NM_001127510.2:c.3389G>T	NP_001120982.1:p.Cys1130Phe
NM_001127511.2:c.3335G>T	NP_001120983.2:p.Cys1112Phe
NM_001354895.1:c.3389G>T	NP_001341824.1:p.Cys1130Phe
NM_001354896.1:c.3443G>T	NP_001341825.1:p.Cys1148Phe
NM_001354897.1:c.3419G>T	NP_001341826.1:p.Cys1140Phe
NM_001354898.1:c.3314G>T	NP_001341827.1:p.Cys1105Phe
NM_001354899.1:c.3305G>T	NP_001341828.1:p.Cys1102Phe
NM_001354900.1:c.3266G>T	NP_001341829.1:p.Cys1089Phe
NM_001354901.1:c.3212G>T	NP_001341830.1:p.Cys1071Phe
NM_001354902.1:c.3116G>T	NP_001341831.1:p.Cys1039Phe
NM_001354903.1:c.3086G>T	NP_001341832.1:p.Cys1029Phe
NM_001354904.1:c.3011G>T	NP_001341833.1:p.Cys1004Phe
NM_001354905.1:c.2909G>T	NP_001341834.1:p.Cys970Phe
NM_001354906.1:c.2540G>T	NP_001341835.1:p.Cys847Phe
NM_000038.6:c.3389G>T MANE Select	NP_000029.2:p.Cys1130Phe
NM_001127510.3:c.3389G>T	NP_001120982.1:p.Cys1130Phe
NM_001127511.3:c.3335G>T	NP_001120983.2:p.Cys1112Phe
NM_001354895.2:c.3389G>T	NP_001341824.1:p.Cys1130Phe
NM_001354896.2:c.3443G>T	NP_001341825.1:p.Cys1148Phe
NM_001354897.2:c.3419G>T	NP_001341826.1:p.Cys1140Phe
NM_001354898.2:c.3314G>T	NP_001341827.1:p.Cys1105Phe
NM_001354899.2:c.3305G>T	NP_001341828.1:p.Cys1102Phe
NM_001354900.2:c.3266G>T	NP_001341829.1:p.Cys1089Phe
NM_001354901.2:c.3212G>T	NP_001341830.1:p.Cys1071Phe
NM_001354902.2:c.3116G>T	NP_001341831.1:p.Cys1039Phe
NM_001354903.2:c.3086G>T	NP_001341832.1:p.Cys1029Phe
NM_001354904.2:c.3011G>T	NP_001341833.1:p.Cys1004Phe
NM_001354905.2:c.2909G>T	NP_001341834.1:p.Cys970Phe
NM_001354906.2:c.2540G>T	NP_001341835.1:p.Cys847Phe