Canonical Allele Identifier: CA16032175

Gene: APC

Linked Data

• dbSNP Id: rs2149928372
• MyVariant Identifiers: chr5:g.112176243T>C (hg19) ; chr5:g.112840546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840546T>C , CM000667.2:g.112840546T>C	GRCh38
NC_000005.9:g.112176243T>C , CM000667.1:g.112176243T>C	GRCh37
NC_000005.8:g.112204142T>C	NCBI36
NG_008481.4:g.153026T>C , LRG_130:g.153026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5006T>C	ENSP00000473355.2:p.Phe1669Ser
ENST00000505350.2:c.*4958T>C	ENSP00000481752.1:n.*4958T>C
ENST00000507379.6:c.4898T>C	ENSP00000423224.2:p.Phe1633Ser
ENST00000509732.6:c.4952T>C	ENSP00000426541.2:p.Phe1651Ser
ENST00000512211.7:c.4952T>C	ENSP00000423828.3:p.Phe1651Ser
ENST00000257430.9:c.4952T>C MANE Select	ENSP00000257430.4:p.Phe1651Ser
ENST00000257430.8:c.4952T>C	ENSP00000257430.4:p.Phe1651Ser
ENST00000508376.6:c.4952T>C	ENSP00000427089.2:p.Phe1651Ser
ENST00000508624.5:c.*4274T>C	ENSP00000424265.1:n.*4274T>C
ENST00000520401.1:c.230+11574T>C
NM_000038.5:c.4952T>C	NP_000029.2:p.Phe1651Ser
NM_001127510.2:c.4952T>C	NP_001120982.1:p.Phe1651Ser
NM_001127511.2:c.4898T>C	NP_001120983.2:p.Phe1633Ser
NM_001354895.1:c.4952T>C	NP_001341824.1:p.Phe1651Ser
NM_001354896.1:c.5006T>C	NP_001341825.1:p.Phe1669Ser
NM_001354897.1:c.4982T>C	NP_001341826.1:p.Phe1661Ser
NM_001354898.1:c.4877T>C	NP_001341827.1:p.Phe1626Ser
NM_001354899.1:c.4868T>C	NP_001341828.1:p.Phe1623Ser
NM_001354900.1:c.4829T>C	NP_001341829.1:p.Phe1610Ser
NM_001354901.1:c.4775T>C	NP_001341830.1:p.Phe1592Ser
NM_001354902.1:c.4679T>C	NP_001341831.1:p.Phe1560Ser
NM_001354903.1:c.4649T>C	NP_001341832.1:p.Phe1550Ser
NM_001354904.1:c.4574T>C	NP_001341833.1:p.Phe1525Ser
NM_001354905.1:c.4472T>C	NP_001341834.1:p.Phe1491Ser
NM_001354906.1:c.4103T>C	NP_001341835.1:p.Phe1368Ser
NM_000038.6:c.4952T>C MANE Select	NP_000029.2:p.Phe1651Ser
NM_001127510.3:c.4952T>C	NP_001120982.1:p.Phe1651Ser
NM_001127511.3:c.4898T>C	NP_001120983.2:p.Phe1633Ser
NM_001354895.2:c.4952T>C	NP_001341824.1:p.Phe1651Ser
NM_001354896.2:c.5006T>C	NP_001341825.1:p.Phe1669Ser
NM_001354897.2:c.4982T>C	NP_001341826.1:p.Phe1661Ser
NM_001354898.2:c.4877T>C	NP_001341827.1:p.Phe1626Ser
NM_001354899.2:c.4868T>C	NP_001341828.1:p.Phe1623Ser
NM_001354900.2:c.4829T>C	NP_001341829.1:p.Phe1610Ser
NM_001354901.2:c.4775T>C	NP_001341830.1:p.Phe1592Ser
NM_001354902.2:c.4679T>C	NP_001341831.1:p.Phe1560Ser
NM_001354903.2:c.4649T>C	NP_001341832.1:p.Phe1550Ser
NM_001354904.2:c.4574T>C	NP_001341833.1:p.Phe1525Ser
NM_001354905.2:c.4472T>C	NP_001341834.1:p.Phe1491Ser
NM_001354906.2:c.4103T>C	NP_001341835.1:p.Phe1368Ser