Canonical Allele Identifier: CA16032893

Gene: APC

Linked Data

• dbSNP Id: rs2149936656
• MyVariant Identifiers: chr5:g.112176580T>G (hg19) ; chr5:g.112840883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840883T>G , CM000667.2:g.112840883T>G	GRCh38
NC_000005.9:g.112176580T>G , CM000667.1:g.112176580T>G	GRCh37
NC_000005.8:g.112204479T>G	NCBI36
NG_008481.4:g.153363T>G , LRG_130:g.153363T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5343T>G	ENSP00000473355.2:p.Asn1781Lys
ENST00000505350.2:c.*5295T>G	ENSP00000481752.1:n.*5295T>G
ENST00000507379.6:c.5235T>G	ENSP00000423224.2:p.Asn1745Lys
ENST00000509732.6:c.5289T>G	ENSP00000426541.2:p.Asn1763Lys
ENST00000512211.7:c.5289T>G	ENSP00000423828.3:p.Asn1763Lys
ENST00000257430.9:c.5289T>G MANE Select	ENSP00000257430.4:p.Asn1763Lys
ENST00000257430.8:c.5289T>G	ENSP00000257430.4:p.Asn1763Lys
ENST00000508376.6:c.5289T>G	ENSP00000427089.2:p.Asn1763Lys
ENST00000508624.5:c.*4611T>G	ENSP00000424265.1:n.*4611T>G
ENST00000520401.1:c.230+11911T>G
NM_000038.5:c.5289T>G	NP_000029.2:p.Asn1763Lys
NM_001127510.2:c.5289T>G	NP_001120982.1:p.Asn1763Lys
NM_001127511.2:c.5235T>G	NP_001120983.2:p.Asn1745Lys
NM_001354895.1:c.5289T>G	NP_001341824.1:p.Asn1763Lys
NM_001354896.1:c.5343T>G	NP_001341825.1:p.Asn1781Lys
NM_001354897.1:c.5319T>G	NP_001341826.1:p.Asn1773Lys
NM_001354898.1:c.5214T>G	NP_001341827.1:p.Asn1738Lys
NM_001354899.1:c.5205T>G	NP_001341828.1:p.Asn1735Lys
NM_001354900.1:c.5166T>G	NP_001341829.1:p.Asn1722Lys
NM_001354901.1:c.5112T>G	NP_001341830.1:p.Asn1704Lys
NM_001354902.1:c.5016T>G	NP_001341831.1:p.Asn1672Lys
NM_001354903.1:c.4986T>G	NP_001341832.1:p.Asn1662Lys
NM_001354904.1:c.4911T>G	NP_001341833.1:p.Asn1637Lys
NM_001354905.1:c.4809T>G	NP_001341834.1:p.Asn1603Lys
NM_001354906.1:c.4440T>G	NP_001341835.1:p.Asn1480Lys
NM_000038.6:c.5289T>G MANE Select	NP_000029.2:p.Asn1763Lys
NM_001127510.3:c.5289T>G	NP_001120982.1:p.Asn1763Lys
NM_001127511.3:c.5235T>G	NP_001120983.2:p.Asn1745Lys
NM_001354895.2:c.5289T>G	NP_001341824.1:p.Asn1763Lys
NM_001354896.2:c.5343T>G	NP_001341825.1:p.Asn1781Lys
NM_001354897.2:c.5319T>G	NP_001341826.1:p.Asn1773Lys
NM_001354898.2:c.5214T>G	NP_001341827.1:p.Asn1738Lys
NM_001354899.2:c.5205T>G	NP_001341828.1:p.Asn1735Lys
NM_001354900.2:c.5166T>G	NP_001341829.1:p.Asn1722Lys
NM_001354901.2:c.5112T>G	NP_001341830.1:p.Asn1704Lys
NM_001354902.2:c.5016T>G	NP_001341831.1:p.Asn1672Lys
NM_001354903.2:c.4986T>G	NP_001341832.1:p.Asn1662Lys
NM_001354904.2:c.4911T>G	NP_001341833.1:p.Asn1637Lys
NM_001354905.2:c.4809T>G	NP_001341834.1:p.Asn1603Lys
NM_001354906.2:c.4440T>G	NP_001341835.1:p.Asn1480Lys