Canonical Allele Identifier: CA16028110

Gene: APC

Linked Data

• dbSNP Id: rs2149884183
• MyVariant Identifiers: chr5:g.112174385T>C (hg19) ; chr5:g.112838688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838688T>C , CM000667.2:g.112838688T>C	GRCh38
NC_000005.9:g.112174385T>C , CM000667.1:g.112174385T>C	GRCh37
NC_000005.8:g.112202284T>C	NCBI36
NG_008481.4:g.151168T>C , LRG_130:g.151168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2759T>C	ENSP00000484935.2:n.2759T>C
ENST00000504915.3:c.3148T>C	ENSP00000473355.2:p.Ser1050Pro
ENST00000505350.2:c.*3100T>C	ENSP00000481752.1:n.*3100T>C
ENST00000507379.6:c.3040T>C	ENSP00000423224.2:p.Ser1014Pro
ENST00000509732.6:c.3094T>C	ENSP00000426541.2:p.Ser1032Pro
ENST00000512211.7:c.3094T>C	ENSP00000423828.3:p.Ser1032Pro
ENST00000257430.9:c.3094T>C MANE Select	ENSP00000257430.4:p.Ser1032Pro
ENST00000257430.8:c.3094T>C	ENSP00000257430.4:p.Ser1032Pro
ENST00000502371.2:c.1447T>C
ENST00000507379.5:c.3040T>C	ENSP00000423224.1:p.Ser1014Pro
ENST00000508376.6:c.3094T>C	ENSP00000427089.2:p.Ser1032Pro
ENST00000508624.5:c.*2416T>C	ENSP00000424265.1:n.*2416T>C
ENST00000512211.6:c.3094T>C	ENSP00000423828.2:p.Ser1032Pro
ENST00000520401.1:c.230+9716T>C
NM_000038.5:c.3094T>C	NP_000029.2:p.Ser1032Pro
NM_001127510.2:c.3094T>C	NP_001120982.1:p.Ser1032Pro
NM_001127511.2:c.3040T>C	NP_001120983.2:p.Ser1014Pro
NM_001354895.1:c.3094T>C	NP_001341824.1:p.Ser1032Pro
NM_001354896.1:c.3148T>C	NP_001341825.1:p.Ser1050Pro
NM_001354897.1:c.3124T>C	NP_001341826.1:p.Ser1042Pro
NM_001354898.1:c.3019T>C	NP_001341827.1:p.Ser1007Pro
NM_001354899.1:c.3010T>C	NP_001341828.1:p.Ser1004Pro
NM_001354900.1:c.2971T>C	NP_001341829.1:p.Ser991Pro
NM_001354901.1:c.2917T>C	NP_001341830.1:p.Ser973Pro
NM_001354902.1:c.2821T>C	NP_001341831.1:p.Ser941Pro
NM_001354903.1:c.2791T>C	NP_001341832.1:p.Ser931Pro
NM_001354904.1:c.2716T>C	NP_001341833.1:p.Ser906Pro
NM_001354905.1:c.2614T>C	NP_001341834.1:p.Ser872Pro
NM_001354906.1:c.2245T>C	NP_001341835.1:p.Ser749Pro
NM_000038.6:c.3094T>C MANE Select	NP_000029.2:p.Ser1032Pro
NM_001127510.3:c.3094T>C	NP_001120982.1:p.Ser1032Pro
NM_001127511.3:c.3040T>C	NP_001120983.2:p.Ser1014Pro
NM_001354895.2:c.3094T>C	NP_001341824.1:p.Ser1032Pro
NM_001354896.2:c.3148T>C	NP_001341825.1:p.Ser1050Pro
NM_001354897.2:c.3124T>C	NP_001341826.1:p.Ser1042Pro
NM_001354898.2:c.3019T>C	NP_001341827.1:p.Ser1007Pro
NM_001354899.2:c.3010T>C	NP_001341828.1:p.Ser1004Pro
NM_001354900.2:c.2971T>C	NP_001341829.1:p.Ser991Pro
NM_001354901.2:c.2917T>C	NP_001341830.1:p.Ser973Pro
NM_001354902.2:c.2821T>C	NP_001341831.1:p.Ser941Pro
NM_001354903.2:c.2791T>C	NP_001341832.1:p.Ser931Pro
NM_001354904.2:c.2716T>C	NP_001341833.1:p.Ser906Pro
NM_001354905.2:c.2614T>C	NP_001341834.1:p.Ser872Pro
NM_001354906.2:c.2245T>C	NP_001341835.1:p.Ser749Pro