Canonical Allele Identifier: CA007890

Gene: APC

Linked Data

• ClinVar Variation Id: 83240
• ClinVar RCV Id: RCV000074231
• dbSNP Id: rs74561014
• MyVariant Identifiers: chr5:g.112174211G>T (hg19) ; chr5:g.112838514G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838514G>T , CM000667.2:g.112838514G>T	GRCh38
NC_000005.9:g.112174211G>T , CM000667.1:g.112174211G>T	GRCh37
NC_000005.8:g.112202110G>T	NCBI36
NG_008481.4:g.150994G>T , LRG_130:g.150994G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2585G>T	ENSP00000484935.2:n.2585G>T
ENST00000504915.3:c.2974G>T	ENSP00000473355.2:p.Gly992Cys
ENST00000505350.2:c.*2926G>T	ENSP00000481752.1:n.*2926G>T
ENST00000507379.6:c.2866G>T	ENSP00000423224.2:p.Gly956Cys
ENST00000509732.6:c.2920G>T	ENSP00000426541.2:p.Gly974Cys
ENST00000512211.7:c.2920G>T	ENSP00000423828.3:p.Gly974Cys
ENST00000257430.9:c.2920G>T MANE Select	ENSP00000257430.4:p.Gly974Cys
ENST00000257430.8:c.2920G>T	ENSP00000257430.4:p.Gly974Cys
ENST00000502371.2:c.1273G>T
ENST00000507379.5:c.2866G>T	ENSP00000423224.1:p.Gly956Cys
ENST00000508376.6:c.2920G>T	ENSP00000427089.2:p.Gly974Cys
ENST00000508624.5:c.*2242G>T	ENSP00000424265.1:n.*2242G>T
ENST00000512211.6:c.2920G>T	ENSP00000423828.2:p.Gly974Cys
ENST00000520401.1:c.230+9542G>T
NM_000038.5:c.2920G>T	NP_000029.2:p.Gly974Cys
NM_001127510.2:c.2920G>T	NP_001120982.1:p.Gly974Cys
NM_001127511.2:c.2866G>T	NP_001120983.2:p.Gly956Cys
NM_001354895.1:c.2920G>T	NP_001341824.1:p.Gly974Cys
NM_001354896.1:c.2974G>T	NP_001341825.1:p.Gly992Cys
NM_001354897.1:c.2950G>T	NP_001341826.1:p.Gly984Cys
NM_001354898.1:c.2845G>T	NP_001341827.1:p.Gly949Cys
NM_001354899.1:c.2836G>T	NP_001341828.1:p.Gly946Cys
NM_001354900.1:c.2797G>T	NP_001341829.1:p.Gly933Cys
NM_001354901.1:c.2743G>T	NP_001341830.1:p.Gly915Cys
NM_001354902.1:c.2647G>T	NP_001341831.1:p.Gly883Cys
NM_001354903.1:c.2617G>T	NP_001341832.1:p.Gly873Cys
NM_001354904.1:c.2542G>T	NP_001341833.1:p.Gly848Cys
NM_001354905.1:c.2440G>T	NP_001341834.1:p.Gly814Cys
NM_001354906.1:c.2071G>T	NP_001341835.1:p.Gly691Cys
NM_000038.6:c.2920G>T MANE Select	NP_000029.2:p.Gly974Cys
NM_001127510.3:c.2920G>T	NP_001120982.1:p.Gly974Cys
NM_001127511.3:c.2866G>T	NP_001120983.2:p.Gly956Cys
NM_001354895.2:c.2920G>T	NP_001341824.1:p.Gly974Cys
NM_001354896.2:c.2974G>T	NP_001341825.1:p.Gly992Cys
NM_001354897.2:c.2950G>T	NP_001341826.1:p.Gly984Cys
NM_001354898.2:c.2845G>T	NP_001341827.1:p.Gly949Cys
NM_001354899.2:c.2836G>T	NP_001341828.1:p.Gly946Cys
NM_001354900.2:c.2797G>T	NP_001341829.1:p.Gly933Cys
NM_001354901.2:c.2743G>T	NP_001341830.1:p.Gly915Cys
NM_001354902.2:c.2647G>T	NP_001341831.1:p.Gly883Cys
NM_001354903.2:c.2617G>T	NP_001341832.1:p.Gly873Cys
NM_001354904.2:c.2542G>T	NP_001341833.1:p.Gly848Cys
NM_001354905.2:c.2440G>T	NP_001341834.1:p.Gly814Cys
NM_001354906.2:c.2071G>T	NP_001341835.1:p.Gly691Cys