Canonical Allele Identifier: CA16031722

Gene: APC

Linked Data

• dbSNP Id: rs2149922516
• MyVariant Identifiers: chr5:g.112176029A>C (hg19) ; chr5:g.112840332A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840332A>C , CM000667.2:g.112840332A>C	GRCh38
NC_000005.9:g.112176029A>C , CM000667.1:g.112176029A>C	GRCh37
NC_000005.8:g.112203928A>C	NCBI36
NG_008481.4:g.152812A>C , LRG_130:g.152812A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4792A>C	ENSP00000473355.2:p.Ile1598Leu
ENST00000505350.2:c.*4744A>C	ENSP00000481752.1:n.*4744A>C
ENST00000507379.6:c.4684A>C	ENSP00000423224.2:p.Ile1562Leu
ENST00000509732.6:c.4738A>C	ENSP00000426541.2:p.Ile1580Leu
ENST00000512211.7:c.4738A>C	ENSP00000423828.3:p.Ile1580Leu
ENST00000257430.9:c.4738A>C MANE Select	ENSP00000257430.4:p.Ile1580Leu
ENST00000257430.8:c.4738A>C	ENSP00000257430.4:p.Ile1580Leu
ENST00000508376.6:c.4738A>C	ENSP00000427089.2:p.Ile1580Leu
ENST00000508624.5:c.*4060A>C	ENSP00000424265.1:n.*4060A>C
ENST00000520401.1:c.230+11360A>C
NM_000038.5:c.4738A>C	NP_000029.2:p.Ile1580Leu
NM_001127510.2:c.4738A>C	NP_001120982.1:p.Ile1580Leu
NM_001127511.2:c.4684A>C	NP_001120983.2:p.Ile1562Leu
NM_001354895.1:c.4738A>C	NP_001341824.1:p.Ile1580Leu
NM_001354896.1:c.4792A>C	NP_001341825.1:p.Ile1598Leu
NM_001354897.1:c.4768A>C	NP_001341826.1:p.Ile1590Leu
NM_001354898.1:c.4663A>C	NP_001341827.1:p.Ile1555Leu
NM_001354899.1:c.4654A>C	NP_001341828.1:p.Ile1552Leu
NM_001354900.1:c.4615A>C	NP_001341829.1:p.Ile1539Leu
NM_001354901.1:c.4561A>C	NP_001341830.1:p.Ile1521Leu
NM_001354902.1:c.4465A>C	NP_001341831.1:p.Ile1489Leu
NM_001354903.1:c.4435A>C	NP_001341832.1:p.Ile1479Leu
NM_001354904.1:c.4360A>C	NP_001341833.1:p.Ile1454Leu
NM_001354905.1:c.4258A>C	NP_001341834.1:p.Ile1420Leu
NM_001354906.1:c.3889A>C	NP_001341835.1:p.Ile1297Leu
NM_000038.6:c.4738A>C MANE Select	NP_000029.2:p.Ile1580Leu
NM_001127510.3:c.4738A>C	NP_001120982.1:p.Ile1580Leu
NM_001127511.3:c.4684A>C	NP_001120983.2:p.Ile1562Leu
NM_001354895.2:c.4738A>C	NP_001341824.1:p.Ile1580Leu
NM_001354896.2:c.4792A>C	NP_001341825.1:p.Ile1598Leu
NM_001354897.2:c.4768A>C	NP_001341826.1:p.Ile1590Leu
NM_001354898.2:c.4663A>C	NP_001341827.1:p.Ile1555Leu
NM_001354899.2:c.4654A>C	NP_001341828.1:p.Ile1552Leu
NM_001354900.2:c.4615A>C	NP_001341829.1:p.Ile1539Leu
NM_001354901.2:c.4561A>C	NP_001341830.1:p.Ile1521Leu
NM_001354902.2:c.4465A>C	NP_001341831.1:p.Ile1489Leu
NM_001354903.2:c.4435A>C	NP_001341832.1:p.Ile1479Leu
NM_001354904.2:c.4360A>C	NP_001341833.1:p.Ile1454Leu
NM_001354905.2:c.4258A>C	NP_001341834.1:p.Ile1420Leu
NM_001354906.2:c.3889A>C	NP_001341835.1:p.Ile1297Leu