Canonical Allele Identifier: CA16028141

Gene: APC

Linked Data

• ClinVar Variation Id: 822908
• ClinVar RCV Id: RCV001018671
• dbSNP Id: rs1580630969
• MyVariant Identifiers: chr5:g.112174398T>G (hg19) ; chr5:g.112838701T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838701T>G , CM000667.2:g.112838701T>G	GRCh38
NC_000005.9:g.112174398T>G , CM000667.1:g.112174398T>G	GRCh37
NC_000005.8:g.112202297T>G	NCBI36
NG_008481.4:g.151181T>G , LRG_130:g.151181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2772T>G	ENSP00000484935.2:n.2772T>G
ENST00000504915.3:c.3161T>G	ENSP00000473355.2:p.Leu1054Trp
ENST00000505350.2:c.*3113T>G	ENSP00000481752.1:n.*3113T>G
ENST00000507379.6:c.3053T>G	ENSP00000423224.2:p.Leu1018Trp
ENST00000509732.6:c.3107T>G	ENSP00000426541.2:p.Leu1036Trp
ENST00000512211.7:c.3107T>G	ENSP00000423828.3:p.Leu1036Trp
ENST00000257430.9:c.3107T>G MANE Select	ENSP00000257430.4:p.Leu1036Trp
ENST00000257430.8:c.3107T>G	ENSP00000257430.4:p.Leu1036Trp
ENST00000502371.2:c.1460T>G
ENST00000507379.5:c.3053T>G	ENSP00000423224.1:p.Leu1018Trp
ENST00000508376.6:c.3107T>G	ENSP00000427089.2:p.Leu1036Trp
ENST00000508624.5:c.*2429T>G	ENSP00000424265.1:n.*2429T>G
ENST00000512211.6:c.3107T>G	ENSP00000423828.2:p.Leu1036Trp
ENST00000520401.1:c.230+9729T>G
NM_000038.5:c.3107T>G	NP_000029.2:p.Leu1036Trp
NM_001127510.2:c.3107T>G	NP_001120982.1:p.Leu1036Trp
NM_001127511.2:c.3053T>G	NP_001120983.2:p.Leu1018Trp
NM_001354895.1:c.3107T>G	NP_001341824.1:p.Leu1036Trp
NM_001354896.1:c.3161T>G	NP_001341825.1:p.Leu1054Trp
NM_001354897.1:c.3137T>G	NP_001341826.1:p.Leu1046Trp
NM_001354898.1:c.3032T>G	NP_001341827.1:p.Leu1011Trp
NM_001354899.1:c.3023T>G	NP_001341828.1:p.Leu1008Trp
NM_001354900.1:c.2984T>G	NP_001341829.1:p.Leu995Trp
NM_001354901.1:c.2930T>G	NP_001341830.1:p.Leu977Trp
NM_001354902.1:c.2834T>G	NP_001341831.1:p.Leu945Trp
NM_001354903.1:c.2804T>G	NP_001341832.1:p.Leu935Trp
NM_001354904.1:c.2729T>G	NP_001341833.1:p.Leu910Trp
NM_001354905.1:c.2627T>G	NP_001341834.1:p.Leu876Trp
NM_001354906.1:c.2258T>G	NP_001341835.1:p.Leu753Trp
NM_000038.6:c.3107T>G MANE Select	NP_000029.2:p.Leu1036Trp
NM_001127510.3:c.3107T>G	NP_001120982.1:p.Leu1036Trp
NM_001127511.3:c.3053T>G	NP_001120983.2:p.Leu1018Trp
NM_001354895.2:c.3107T>G	NP_001341824.1:p.Leu1036Trp
NM_001354896.2:c.3161T>G	NP_001341825.1:p.Leu1054Trp
NM_001354897.2:c.3137T>G	NP_001341826.1:p.Leu1046Trp
NM_001354898.2:c.3032T>G	NP_001341827.1:p.Leu1011Trp
NM_001354899.2:c.3023T>G	NP_001341828.1:p.Leu1008Trp
NM_001354900.2:c.2984T>G	NP_001341829.1:p.Leu995Trp
NM_001354901.2:c.2930T>G	NP_001341830.1:p.Leu977Trp
NM_001354902.2:c.2834T>G	NP_001341831.1:p.Leu945Trp
NM_001354903.2:c.2804T>G	NP_001341832.1:p.Leu935Trp
NM_001354904.2:c.2729T>G	NP_001341833.1:p.Leu910Trp
NM_001354905.2:c.2627T>G	NP_001341834.1:p.Leu876Trp
NM_001354906.2:c.2258T>G	NP_001341835.1:p.Leu753Trp