Canonical Allele Identifier: CA16032550

Gene: APC

Linked Data

• dbSNP Id: rs2149932857
• MyVariant Identifiers: chr5:g.112176425G>T (hg19) ; chr5:g.112840728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840728G>T , CM000667.2:g.112840728G>T	GRCh38
NC_000005.9:g.112176425G>T , CM000667.1:g.112176425G>T	GRCh37
NC_000005.8:g.112204324G>T	NCBI36
NG_008481.4:g.153208G>T , LRG_130:g.153208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5188G>T	ENSP00000473355.2:p.Glu1730Ter
ENST00000505350.2:c.*5140G>T	ENSP00000481752.1:n.*5140G>T
ENST00000507379.6:c.5080G>T	ENSP00000423224.2:p.Glu1694Ter
ENST00000509732.6:c.5134G>T	ENSP00000426541.2:p.Glu1712Ter
ENST00000512211.7:c.5134G>T	ENSP00000423828.3:p.Glu1712Ter
ENST00000257430.9:c.5134G>T MANE Select	ENSP00000257430.4:p.Glu1712Ter
ENST00000257430.8:c.5134G>T	ENSP00000257430.4:p.Glu1712Ter
ENST00000508376.6:c.5134G>T	ENSP00000427089.2:p.Glu1712Ter
ENST00000508624.5:c.*4456G>T	ENSP00000424265.1:n.*4456G>T
ENST00000520401.1:c.230+11756G>T
NM_000038.5:c.5134G>T	NP_000029.2:p.Glu1712Ter
NM_001127510.2:c.5134G>T	NP_001120982.1:p.Glu1712Ter
NM_001127511.2:c.5080G>T	NP_001120983.2:p.Glu1694Ter
NM_001354895.1:c.5134G>T	NP_001341824.1:p.Glu1712Ter
NM_001354896.1:c.5188G>T	NP_001341825.1:p.Glu1730Ter
NM_001354897.1:c.5164G>T	NP_001341826.1:p.Glu1722Ter
NM_001354898.1:c.5059G>T	NP_001341827.1:p.Glu1687Ter
NM_001354899.1:c.5050G>T	NP_001341828.1:p.Glu1684Ter
NM_001354900.1:c.5011G>T	NP_001341829.1:p.Glu1671Ter
NM_001354901.1:c.4957G>T	NP_001341830.1:p.Glu1653Ter
NM_001354902.1:c.4861G>T	NP_001341831.1:p.Glu1621Ter
NM_001354903.1:c.4831G>T	NP_001341832.1:p.Glu1611Ter
NM_001354904.1:c.4756G>T	NP_001341833.1:p.Glu1586Ter
NM_001354905.1:c.4654G>T	NP_001341834.1:p.Glu1552Ter
NM_001354906.1:c.4285G>T	NP_001341835.1:p.Glu1429Ter
NM_000038.6:c.5134G>T MANE Select	NP_000029.2:p.Glu1712Ter
NM_001127510.3:c.5134G>T	NP_001120982.1:p.Glu1712Ter
NM_001127511.3:c.5080G>T	NP_001120983.2:p.Glu1694Ter
NM_001354895.2:c.5134G>T	NP_001341824.1:p.Glu1712Ter
NM_001354896.2:c.5188G>T	NP_001341825.1:p.Glu1730Ter
NM_001354897.2:c.5164G>T	NP_001341826.1:p.Glu1722Ter
NM_001354898.2:c.5059G>T	NP_001341827.1:p.Glu1687Ter
NM_001354899.2:c.5050G>T	NP_001341828.1:p.Glu1684Ter
NM_001354900.2:c.5011G>T	NP_001341829.1:p.Glu1671Ter
NM_001354901.2:c.4957G>T	NP_001341830.1:p.Glu1653Ter
NM_001354902.2:c.4861G>T	NP_001341831.1:p.Glu1621Ter
NM_001354903.2:c.4831G>T	NP_001341832.1:p.Glu1611Ter
NM_001354904.2:c.4756G>T	NP_001341833.1:p.Glu1586Ter
NM_001354905.2:c.4654G>T	NP_001341834.1:p.Glu1552Ter
NM_001354906.2:c.4285G>T	NP_001341835.1:p.Glu1429Ter