Canonical Allele Identifier: CA16032658

Gene: APC

Linked Data

• dbSNP Id: rs778283715
• MyVariant Identifiers: chr5:g.112176473A>T (hg19) ; chr5:g.112840776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840776A>T , CM000667.2:g.112840776A>T	GRCh38
NC_000005.9:g.112176473A>T , CM000667.1:g.112176473A>T	GRCh37
NC_000005.8:g.112204372A>T	NCBI36
NG_008481.4:g.153256A>T , LRG_130:g.153256A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5236A>T	ENSP00000473355.2:p.Ile1746Phe
ENST00000505350.2:c.*5188A>T	ENSP00000481752.1:n.*5188A>T
ENST00000507379.6:c.5128A>T	ENSP00000423224.2:p.Ile1710Phe
ENST00000509732.6:c.5182A>T	ENSP00000426541.2:p.Ile1728Phe
ENST00000512211.7:c.5182A>T	ENSP00000423828.3:p.Ile1728Phe
ENST00000257430.9:c.5182A>T MANE Select	ENSP00000257430.4:p.Ile1728Phe
ENST00000257430.8:c.5182A>T	ENSP00000257430.4:p.Ile1728Phe
ENST00000508376.6:c.5182A>T	ENSP00000427089.2:p.Ile1728Phe
ENST00000508624.5:c.*4504A>T	ENSP00000424265.1:n.*4504A>T
ENST00000520401.1:c.230+11804A>T
NM_000038.5:c.5182A>T	NP_000029.2:p.Ile1728Phe
NM_001127510.2:c.5182A>T	NP_001120982.1:p.Ile1728Phe
NM_001127511.2:c.5128A>T	NP_001120983.2:p.Ile1710Phe
NM_001354895.1:c.5182A>T	NP_001341824.1:p.Ile1728Phe
NM_001354896.1:c.5236A>T	NP_001341825.1:p.Ile1746Phe
NM_001354897.1:c.5212A>T	NP_001341826.1:p.Ile1738Phe
NM_001354898.1:c.5107A>T	NP_001341827.1:p.Ile1703Phe
NM_001354899.1:c.5098A>T	NP_001341828.1:p.Ile1700Phe
NM_001354900.1:c.5059A>T	NP_001341829.1:p.Ile1687Phe
NM_001354901.1:c.5005A>T	NP_001341830.1:p.Ile1669Phe
NM_001354902.1:c.4909A>T	NP_001341831.1:p.Ile1637Phe
NM_001354903.1:c.4879A>T	NP_001341832.1:p.Ile1627Phe
NM_001354904.1:c.4804A>T	NP_001341833.1:p.Ile1602Phe
NM_001354905.1:c.4702A>T	NP_001341834.1:p.Ile1568Phe
NM_001354906.1:c.4333A>T	NP_001341835.1:p.Ile1445Phe
NM_000038.6:c.5182A>T MANE Select	NP_000029.2:p.Ile1728Phe
NM_001127510.3:c.5182A>T	NP_001120982.1:p.Ile1728Phe
NM_001127511.3:c.5128A>T	NP_001120983.2:p.Ile1710Phe
NM_001354895.2:c.5182A>T	NP_001341824.1:p.Ile1728Phe
NM_001354896.2:c.5236A>T	NP_001341825.1:p.Ile1746Phe
NM_001354897.2:c.5212A>T	NP_001341826.1:p.Ile1738Phe
NM_001354898.2:c.5107A>T	NP_001341827.1:p.Ile1703Phe
NM_001354899.2:c.5098A>T	NP_001341828.1:p.Ile1700Phe
NM_001354900.2:c.5059A>T	NP_001341829.1:p.Ile1687Phe
NM_001354901.2:c.5005A>T	NP_001341830.1:p.Ile1669Phe
NM_001354902.2:c.4909A>T	NP_001341831.1:p.Ile1637Phe
NM_001354903.2:c.4879A>T	NP_001341832.1:p.Ile1627Phe
NM_001354904.2:c.4804A>T	NP_001341833.1:p.Ile1602Phe
NM_001354905.2:c.4702A>T	NP_001341834.1:p.Ile1568Phe
NM_001354906.2:c.4333A>T	NP_001341835.1:p.Ile1445Phe