Canonical Allele Identifier: CA16027475

Gene: APC

Linked Data

• dbSNP Id: rs2149878095
• MyVariant Identifiers: chr5:g.112174109T>A (hg19) ; chr5:g.112838412T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838412T>A , CM000667.2:g.112838412T>A	GRCh38
NC_000005.9:g.112174109T>A , CM000667.1:g.112174109T>A	GRCh37
NC_000005.8:g.112202008T>A	NCBI36
NG_008481.4:g.150892T>A , LRG_130:g.150892T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2483T>A	ENSP00000484935.2:n.2483T>A
ENST00000504915.3:c.2872T>A	ENSP00000473355.2:p.Ser958Thr
ENST00000505350.2:c.*2824T>A	ENSP00000481752.1:n.*2824T>A
ENST00000507379.6:c.2764T>A	ENSP00000423224.2:p.Ser922Thr
ENST00000509732.6:c.2818T>A	ENSP00000426541.2:p.Ser940Thr
ENST00000512211.7:c.2818T>A	ENSP00000423828.3:p.Ser940Thr
ENST00000257430.9:c.2818T>A MANE Select	ENSP00000257430.4:p.Ser940Thr
ENST00000257430.8:c.2818T>A	ENSP00000257430.4:p.Ser940Thr
ENST00000502371.2:c.1171T>A
ENST00000507379.5:c.2764T>A	ENSP00000423224.1:p.Ser922Thr
ENST00000508376.6:c.2818T>A	ENSP00000427089.2:p.Ser940Thr
ENST00000508624.5:c.*2140T>A	ENSP00000424265.1:n.*2140T>A
ENST00000512211.6:c.2818T>A	ENSP00000423828.2:p.Ser940Thr
ENST00000520401.1:c.230+9440T>A
NM_000038.5:c.2818T>A	NP_000029.2:p.Ser940Thr
NM_001127510.2:c.2818T>A	NP_001120982.1:p.Ser940Thr
NM_001127511.2:c.2764T>A	NP_001120983.2:p.Ser922Thr
NM_001354895.1:c.2818T>A	NP_001341824.1:p.Ser940Thr
NM_001354896.1:c.2872T>A	NP_001341825.1:p.Ser958Thr
NM_001354897.1:c.2848T>A	NP_001341826.1:p.Ser950Thr
NM_001354898.1:c.2743T>A	NP_001341827.1:p.Ser915Thr
NM_001354899.1:c.2734T>A	NP_001341828.1:p.Ser912Thr
NM_001354900.1:c.2695T>A	NP_001341829.1:p.Ser899Thr
NM_001354901.1:c.2641T>A	NP_001341830.1:p.Ser881Thr
NM_001354902.1:c.2545T>A	NP_001341831.1:p.Ser849Thr
NM_001354903.1:c.2515T>A	NP_001341832.1:p.Ser839Thr
NM_001354904.1:c.2440T>A	NP_001341833.1:p.Ser814Thr
NM_001354905.1:c.2338T>A	NP_001341834.1:p.Ser780Thr
NM_001354906.1:c.1969T>A	NP_001341835.1:p.Ser657Thr
NM_000038.6:c.2818T>A MANE Select	NP_000029.2:p.Ser940Thr
NM_001127510.3:c.2818T>A	NP_001120982.1:p.Ser940Thr
NM_001127511.3:c.2764T>A	NP_001120983.2:p.Ser922Thr
NM_001354895.2:c.2818T>A	NP_001341824.1:p.Ser940Thr
NM_001354896.2:c.2872T>A	NP_001341825.1:p.Ser958Thr
NM_001354897.2:c.2848T>A	NP_001341826.1:p.Ser950Thr
NM_001354898.2:c.2743T>A	NP_001341827.1:p.Ser915Thr
NM_001354899.2:c.2734T>A	NP_001341828.1:p.Ser912Thr
NM_001354900.2:c.2695T>A	NP_001341829.1:p.Ser899Thr
NM_001354901.2:c.2641T>A	NP_001341830.1:p.Ser881Thr
NM_001354902.2:c.2545T>A	NP_001341831.1:p.Ser849Thr
NM_001354903.2:c.2515T>A	NP_001341832.1:p.Ser839Thr
NM_001354904.2:c.2440T>A	NP_001341833.1:p.Ser814Thr
NM_001354905.2:c.2338T>A	NP_001341834.1:p.Ser780Thr
NM_001354906.2:c.1969T>A	NP_001341835.1:p.Ser657Thr