Canonical Allele Identifier: CA10582297

Gene: APC

Linked Data

• ClinVar Variation Id: 236574
• ClinVar RCV Id: RCV002429085 ; RCV003998660 ; RCV003650518
• dbSNP Id: rs878853427
• gnomAD v4: 5-112838086-T-C
• MyVariant Identifiers: chr5:g.112173783T>C (hg19) ; chr5:g.112838086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838086T>C , CM000667.2:g.112838086T>C	GRCh38
NC_000005.9:g.112173783T>C , CM000667.1:g.112173783T>C	GRCh37
NC_000005.8:g.112201682T>C	NCBI36
NG_008481.4:g.150566T>C , LRG_130:g.150566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2157T>C	ENSP00000484935.2:n.2157T>C
ENST00000504915.3:c.2546T>C	ENSP00000473355.2:p.Leu849Ser
ENST00000505350.2:c.*2498T>C	ENSP00000481752.1:n.*2498T>C
ENST00000507379.6:c.2438T>C	ENSP00000423224.2:p.Leu813Ser
ENST00000509732.6:c.2492T>C	ENSP00000426541.2:p.Leu831Ser
ENST00000512211.7:c.2492T>C	ENSP00000423828.3:p.Leu831Ser
ENST00000257430.9:c.2492T>C MANE Select	ENSP00000257430.4:p.Leu831Ser
ENST00000257430.8:c.2492T>C	ENSP00000257430.4:p.Leu831Ser
ENST00000502371.2:c.845T>C
ENST00000507379.5:c.2438T>C	ENSP00000423224.1:p.Leu813Ser
ENST00000508376.6:c.2492T>C	ENSP00000427089.2:p.Leu831Ser
ENST00000508624.5:c.*1814T>C	ENSP00000424265.1:n.*1814T>C
ENST00000512211.6:c.2492T>C	ENSP00000423828.2:p.Leu831Ser
ENST00000520401.1:c.230+9114T>C
NM_000038.5:c.2492T>C	NP_000029.2:p.Leu831Ser
NM_001127510.2:c.2492T>C	NP_001120982.1:p.Leu831Ser
NM_001127511.2:c.2438T>C	NP_001120983.2:p.Leu813Ser
NM_001354895.1:c.2492T>C	NP_001341824.1:p.Leu831Ser
NM_001354896.1:c.2546T>C	NP_001341825.1:p.Leu849Ser
NM_001354897.1:c.2522T>C	NP_001341826.1:p.Leu841Ser
NM_001354898.1:c.2417T>C	NP_001341827.1:p.Leu806Ser
NM_001354899.1:c.2408T>C	NP_001341828.1:p.Leu803Ser
NM_001354900.1:c.2369T>C	NP_001341829.1:p.Leu790Ser
NM_001354901.1:c.2315T>C	NP_001341830.1:p.Leu772Ser
NM_001354902.1:c.2219T>C	NP_001341831.1:p.Leu740Ser
NM_001354903.1:c.2189T>C	NP_001341832.1:p.Leu730Ser
NM_001354904.1:c.2114T>C	NP_001341833.1:p.Leu705Ser
NM_001354905.1:c.2012T>C	NP_001341834.1:p.Leu671Ser
NM_001354906.1:c.1643T>C	NP_001341835.1:p.Leu548Ser
NM_000038.6:c.2492T>C MANE Select	NP_000029.2:p.Leu831Ser
NM_001127510.3:c.2492T>C	NP_001120982.1:p.Leu831Ser
NM_001127511.3:c.2438T>C	NP_001120983.2:p.Leu813Ser
NM_001354895.2:c.2492T>C	NP_001341824.1:p.Leu831Ser
NM_001354896.2:c.2546T>C	NP_001341825.1:p.Leu849Ser
NM_001354897.2:c.2522T>C	NP_001341826.1:p.Leu841Ser
NM_001354898.2:c.2417T>C	NP_001341827.1:p.Leu806Ser
NM_001354899.2:c.2408T>C	NP_001341828.1:p.Leu803Ser
NM_001354900.2:c.2369T>C	NP_001341829.1:p.Leu790Ser
NM_001354901.2:c.2315T>C	NP_001341830.1:p.Leu772Ser
NM_001354902.2:c.2219T>C	NP_001341831.1:p.Leu740Ser
NM_001354903.2:c.2189T>C	NP_001341832.1:p.Leu730Ser
NM_001354904.2:c.2114T>C	NP_001341833.1:p.Leu705Ser
NM_001354905.2:c.2012T>C	NP_001341834.1:p.Leu671Ser
NM_001354906.2:c.1643T>C	NP_001341835.1:p.Leu548Ser