Canonical Allele Identifier: CA16039553

Gene: APC

Linked Data

• ClinVar Variation Id: 485117
• ClinVar RCV Id: RCV000561033 ; RCV003537184
• dbSNP Id: rs906191341
• gnomAD v4: 5-112843989-T-C
• MyVariant Identifiers: chr5:g.112179686T>C (hg19) ; chr5:g.112843989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843989T>C , CM000667.2:g.112843989T>C	GRCh38
NC_000005.9:g.112179686T>C , CM000667.1:g.112179686T>C	GRCh37
NC_000005.8:g.112207585T>C	NCBI36
NG_008481.4:g.156469T>C , LRG_130:g.156469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8449T>C	ENSP00000473355.2:p.Ser2817Pro
ENST00000505350.2:c.*8401T>C	ENSP00000481752.1:n.*8401T>C
ENST00000507379.6:c.8341T>C	ENSP00000423224.2:p.Ser2781Pro
ENST00000509732.6:c.8395T>C	ENSP00000426541.2:p.Ser2799Pro
ENST00000512211.7:c.8395T>C	ENSP00000423828.3:p.Ser2799Pro
ENST00000257430.9:c.8395T>C MANE Select	ENSP00000257430.4:p.Ser2799Pro
ENST00000257430.8:c.8395T>C	ENSP00000257430.4:p.Ser2799Pro
ENST00000508376.6:c.8395T>C	ENSP00000427089.2:p.Ser2799Pro
ENST00000520401.1:c.231-12660T>C
NM_000038.5:c.8395T>C	NP_000029.2:p.Ser2799Pro
NM_001127510.2:c.8395T>C	NP_001120982.1:p.Ser2799Pro
NM_001127511.2:c.8341T>C	NP_001120983.2:p.Ser2781Pro
NM_001354895.1:c.8395T>C	NP_001341824.1:p.Ser2799Pro
NM_001354896.1:c.8449T>C	NP_001341825.1:p.Ser2817Pro
NM_001354897.1:c.8425T>C	NP_001341826.1:p.Ser2809Pro
NM_001354898.1:c.8320T>C	NP_001341827.1:p.Ser2774Pro
NM_001354899.1:c.8311T>C	NP_001341828.1:p.Ser2771Pro
NM_001354900.1:c.8272T>C	NP_001341829.1:p.Ser2758Pro
NM_001354901.1:c.8218T>C	NP_001341830.1:p.Ser2740Pro
NM_001354902.1:c.8122T>C	NP_001341831.1:p.Ser2708Pro
NM_001354903.1:c.8092T>C	NP_001341832.1:p.Ser2698Pro
NM_001354904.1:c.8017T>C	NP_001341833.1:p.Ser2673Pro
NM_001354905.1:c.7915T>C	NP_001341834.1:p.Ser2639Pro
NM_001354906.1:c.7546T>C	NP_001341835.1:p.Ser2516Pro
NM_000038.6:c.8395T>C MANE Select	NP_000029.2:p.Ser2799Pro
NM_001127510.3:c.8395T>C	NP_001120982.1:p.Ser2799Pro
NM_001127511.3:c.8341T>C	NP_001120983.2:p.Ser2781Pro
NM_001354895.2:c.8395T>C	NP_001341824.1:p.Ser2799Pro
NM_001354896.2:c.8449T>C	NP_001341825.1:p.Ser2817Pro
NM_001354897.2:c.8425T>C	NP_001341826.1:p.Ser2809Pro
NM_001354898.2:c.8320T>C	NP_001341827.1:p.Ser2774Pro
NM_001354899.2:c.8311T>C	NP_001341828.1:p.Ser2771Pro
NM_001354900.2:c.8272T>C	NP_001341829.1:p.Ser2758Pro
NM_001354901.2:c.8218T>C	NP_001341830.1:p.Ser2740Pro
NM_001354902.2:c.8122T>C	NP_001341831.1:p.Ser2708Pro
NM_001354903.2:c.8092T>C	NP_001341832.1:p.Ser2698Pro
NM_001354904.2:c.8017T>C	NP_001341833.1:p.Ser2673Pro
NM_001354905.2:c.7915T>C	NP_001341834.1:p.Ser2639Pro
NM_001354906.2:c.7546T>C	NP_001341835.1:p.Ser2516Pro