Canonical Allele Identifier: CA446210927

Gene: APC

Linked Data

• dbSNP Id: rs2149995309
• gnomAD v4: 5-112843469-T-C
• MyVariant Identifiers: chr5:g.112179166T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843469T>C , CM000667.2:g.112843469T>C	GRCh38
NC_000005.9:g.112179166T>C , CM000667.1:g.112179166T>C	GRCh37
NC_000005.8:g.112207065T>C	NCBI36
NG_008481.4:g.155949T>C , LRG_130:g.155949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7929T>C	ENSP00000473355.2:p.Ser2643=
ENST00000505350.2:c.*7881T>C	ENSP00000481752.1:n.*7881T>C
ENST00000507379.6:c.7821T>C	ENSP00000423224.2:p.Ser2607=
ENST00000509732.6:c.7875T>C	ENSP00000426541.2:p.Ser2625=
ENST00000512211.7:c.7875T>C	ENSP00000423828.3:p.Ser2625=
ENST00000257430.9:c.7875T>C MANE Select	ENSP00000257430.4:p.Ser2625=
ENST00000257430.8:c.7875T>C	ENSP00000257430.4:p.Ser2625=
ENST00000508376.6:c.7875T>C	ENSP00000427089.2:p.Ser2625=
ENST00000520401.1:c.231-13180T>C
NM_000038.5:c.7875T>C	NP_000029.2:p.Ser2625=
NM_001127510.2:c.7875T>C	NP_001120982.1:p.Ser2625=
NM_001127511.2:c.7821T>C	NP_001120983.2:p.Ser2607=
NM_001354895.1:c.7875T>C	NP_001341824.1:p.Ser2625=
NM_001354896.1:c.7929T>C	NP_001341825.1:p.Ser2643=
NM_001354897.1:c.7905T>C	NP_001341826.1:p.Ser2635=
NM_001354898.1:c.7800T>C	NP_001341827.1:p.Ser2600=
NM_001354899.1:c.7791T>C	NP_001341828.1:p.Ser2597=
NM_001354900.1:c.7752T>C	NP_001341829.1:p.Ser2584=
NM_001354901.1:c.7698T>C	NP_001341830.1:p.Ser2566=
NM_001354902.1:c.7602T>C	NP_001341831.1:p.Ser2534=
NM_001354903.1:c.7572T>C	NP_001341832.1:p.Ser2524=
NM_001354904.1:c.7497T>C	NP_001341833.1:p.Ser2499=
NM_001354905.1:c.7395T>C	NP_001341834.1:p.Ser2465=
NM_001354906.1:c.7026T>C	NP_001341835.1:p.Ser2342=
NM_000038.6:c.7875T>C MANE Select	NP_000029.2:p.Ser2625=
NM_001127510.3:c.7875T>C	NP_001120982.1:p.Ser2625=
NM_001127511.3:c.7821T>C	NP_001120983.2:p.Ser2607=
NM_001354895.2:c.7875T>C	NP_001341824.1:p.Ser2625=
NM_001354896.2:c.7929T>C	NP_001341825.1:p.Ser2643=
NM_001354897.2:c.7905T>C	NP_001341826.1:p.Ser2635=
NM_001354898.2:c.7800T>C	NP_001341827.1:p.Ser2600=
NM_001354899.2:c.7791T>C	NP_001341828.1:p.Ser2597=
NM_001354900.2:c.7752T>C	NP_001341829.1:p.Ser2584=
NM_001354901.2:c.7698T>C	NP_001341830.1:p.Ser2566=
NM_001354902.2:c.7602T>C	NP_001341831.1:p.Ser2534=
NM_001354903.2:c.7572T>C	NP_001341832.1:p.Ser2524=
NM_001354904.2:c.7497T>C	NP_001341833.1:p.Ser2499=
NM_001354905.2:c.7395T>C	NP_001341834.1:p.Ser2465=
NM_001354906.2:c.7026T>C	NP_001341835.1:p.Ser2342=