Canonical Allele Identifier: CA16028750

Gene: APC

Linked Data

• ClinVar Variation Id: 2452701
• ClinVar RCV Id: RCV003177475
• dbSNP Id: rs143638171
• MyVariant Identifiers: chr5:g.112174677T>A (hg19) ; chr5:g.112838980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838980T>A , CM000667.2:g.112838980T>A	GRCh38
NC_000005.9:g.112174677T>A , CM000667.1:g.112174677T>A	GRCh37
NC_000005.8:g.112202576T>A	NCBI36
NG_008481.4:g.151460T>A , LRG_130:g.151460T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3051T>A	ENSP00000484935.2:n.3051T>A
ENST00000504915.3:c.3440T>A	ENSP00000473355.2:p.Leu1147Ter
ENST00000505350.2:c.*3392T>A	ENSP00000481752.1:n.*3392T>A
ENST00000507379.6:c.3332T>A	ENSP00000423224.2:p.Leu1111Ter
ENST00000509732.6:c.3386T>A	ENSP00000426541.2:p.Leu1129Ter
ENST00000512211.7:c.3386T>A	ENSP00000423828.3:p.Leu1129Ter
ENST00000257430.9:c.3386T>A MANE Select	ENSP00000257430.4:p.Leu1129Ter
ENST00000257430.8:c.3386T>A	ENSP00000257430.4:p.Leu1129Ter
ENST00000502371.2:c.1739T>A
ENST00000507379.5:c.3332T>A	ENSP00000423224.1:p.Leu1111Ter
ENST00000508376.6:c.3386T>A	ENSP00000427089.2:p.Leu1129Ter
ENST00000508624.5:c.*2708T>A	ENSP00000424265.1:n.*2708T>A
ENST00000512211.6:c.3386T>A	ENSP00000423828.2:p.Leu1129Ter
ENST00000520401.1:c.230+10008T>A
NM_000038.5:c.3386T>A	NP_000029.2:p.Leu1129Ter
NM_001127510.2:c.3386T>A	NP_001120982.1:p.Leu1129Ter
NM_001127511.2:c.3332T>A	NP_001120983.2:p.Leu1111Ter
NM_001354895.1:c.3386T>A	NP_001341824.1:p.Leu1129Ter
NM_001354896.1:c.3440T>A	NP_001341825.1:p.Leu1147Ter
NM_001354897.1:c.3416T>A	NP_001341826.1:p.Leu1139Ter
NM_001354898.1:c.3311T>A	NP_001341827.1:p.Leu1104Ter
NM_001354899.1:c.3302T>A	NP_001341828.1:p.Leu1101Ter
NM_001354900.1:c.3263T>A	NP_001341829.1:p.Leu1088Ter
NM_001354901.1:c.3209T>A	NP_001341830.1:p.Leu1070Ter
NM_001354902.1:c.3113T>A	NP_001341831.1:p.Leu1038Ter
NM_001354903.1:c.3083T>A	NP_001341832.1:p.Leu1028Ter
NM_001354904.1:c.3008T>A	NP_001341833.1:p.Leu1003Ter
NM_001354905.1:c.2906T>A	NP_001341834.1:p.Leu969Ter
NM_001354906.1:c.2537T>A	NP_001341835.1:p.Leu846Ter
NM_000038.6:c.3386T>A MANE Select	NP_000029.2:p.Leu1129Ter
NM_001127510.3:c.3386T>A	NP_001120982.1:p.Leu1129Ter
NM_001127511.3:c.3332T>A	NP_001120983.2:p.Leu1111Ter
NM_001354895.2:c.3386T>A	NP_001341824.1:p.Leu1129Ter
NM_001354896.2:c.3440T>A	NP_001341825.1:p.Leu1147Ter
NM_001354897.2:c.3416T>A	NP_001341826.1:p.Leu1139Ter
NM_001354898.2:c.3311T>A	NP_001341827.1:p.Leu1104Ter
NM_001354899.2:c.3302T>A	NP_001341828.1:p.Leu1101Ter
NM_001354900.2:c.3263T>A	NP_001341829.1:p.Leu1088Ter
NM_001354901.2:c.3209T>A	NP_001341830.1:p.Leu1070Ter
NM_001354902.2:c.3113T>A	NP_001341831.1:p.Leu1038Ter
NM_001354903.2:c.3083T>A	NP_001341832.1:p.Leu1028Ter
NM_001354904.2:c.3008T>A	NP_001341833.1:p.Leu1003Ter
NM_001354905.2:c.2906T>A	NP_001341834.1:p.Leu969Ter
NM_001354906.2:c.2537T>A	NP_001341835.1:p.Leu846Ter