Canonical Allele Identifier: CA16038647

Gene: APC

Linked Data

• dbSNP Id: rs79619757
• gnomAD v4: 5-112843567-G-C
• MyVariant Identifiers: chr5:g.112179264G>C (hg19) ; chr5:g.112843567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843567G>C , CM000667.2:g.112843567G>C	GRCh38
NC_000005.9:g.112179264G>C , CM000667.1:g.112179264G>C	GRCh37
NC_000005.8:g.112207163G>C	NCBI36
NG_008481.4:g.156047G>C , LRG_130:g.156047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8027G>C	ENSP00000473355.2:p.Trp2676Ser
ENST00000505350.2:c.*7979G>C	ENSP00000481752.1:n.*7979G>C
ENST00000507379.6:c.7919G>C	ENSP00000423224.2:p.Trp2640Ser
ENST00000509732.6:c.7973G>C	ENSP00000426541.2:p.Trp2658Ser
ENST00000512211.7:c.7973G>C	ENSP00000423828.3:p.Trp2658Ser
ENST00000257430.9:c.7973G>C MANE Select	ENSP00000257430.4:p.Trp2658Ser
ENST00000257430.8:c.7973G>C	ENSP00000257430.4:p.Trp2658Ser
ENST00000508376.6:c.7973G>C	ENSP00000427089.2:p.Trp2658Ser
ENST00000520401.1:c.231-13082G>C
NM_000038.5:c.7973G>C	NP_000029.2:p.Trp2658Ser
NM_001127510.2:c.7973G>C	NP_001120982.1:p.Trp2658Ser
NM_001127511.2:c.7919G>C	NP_001120983.2:p.Trp2640Ser
NM_001354895.1:c.7973G>C	NP_001341824.1:p.Trp2658Ser
NM_001354896.1:c.8027G>C	NP_001341825.1:p.Trp2676Ser
NM_001354897.1:c.8003G>C	NP_001341826.1:p.Trp2668Ser
NM_001354898.1:c.7898G>C	NP_001341827.1:p.Trp2633Ser
NM_001354899.1:c.7889G>C	NP_001341828.1:p.Trp2630Ser
NM_001354900.1:c.7850G>C	NP_001341829.1:p.Trp2617Ser
NM_001354901.1:c.7796G>C	NP_001341830.1:p.Trp2599Ser
NM_001354902.1:c.7700G>C	NP_001341831.1:p.Trp2567Ser
NM_001354903.1:c.7670G>C	NP_001341832.1:p.Trp2557Ser
NM_001354904.1:c.7595G>C	NP_001341833.1:p.Trp2532Ser
NM_001354905.1:c.7493G>C	NP_001341834.1:p.Trp2498Ser
NM_001354906.1:c.7124G>C	NP_001341835.1:p.Trp2375Ser
NM_000038.6:c.7973G>C MANE Select	NP_000029.2:p.Trp2658Ser
NM_001127510.3:c.7973G>C	NP_001120982.1:p.Trp2658Ser
NM_001127511.3:c.7919G>C	NP_001120983.2:p.Trp2640Ser
NM_001354895.2:c.7973G>C	NP_001341824.1:p.Trp2658Ser
NM_001354896.2:c.8027G>C	NP_001341825.1:p.Trp2676Ser
NM_001354897.2:c.8003G>C	NP_001341826.1:p.Trp2668Ser
NM_001354898.2:c.7898G>C	NP_001341827.1:p.Trp2633Ser
NM_001354899.2:c.7889G>C	NP_001341828.1:p.Trp2630Ser
NM_001354900.2:c.7850G>C	NP_001341829.1:p.Trp2617Ser
NM_001354901.2:c.7796G>C	NP_001341830.1:p.Trp2599Ser
NM_001354902.2:c.7700G>C	NP_001341831.1:p.Trp2567Ser
NM_001354903.2:c.7670G>C	NP_001341832.1:p.Trp2557Ser
NM_001354904.2:c.7595G>C	NP_001341833.1:p.Trp2532Ser
NM_001354905.2:c.7493G>C	NP_001341834.1:p.Trp2498Ser
NM_001354906.2:c.7124G>C	NP_001341835.1:p.Trp2375Ser