Canonical Allele Identifier: CA16025522

Gene: APC

Linked Data

• ClinVar Variation Id: 2830039
• ClinVar RCV Id: RCV003744312
• MyVariant Identifiers: chr5:g.112170828G>T (hg19) ; chr5:g.112835131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835131G>T , CM000667.2:g.112835131G>T	GRCh38
NC_000005.9:g.112170828G>T , CM000667.1:g.112170828G>T	GRCh37
NC_000005.8:g.112198727G>T	NCBI36
NG_008481.4:g.147611G>T , LRG_130:g.147611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1589G>T	ENSP00000484935.2:n.1589G>T
ENST00000504915.3:c.1978G>T	ENSP00000473355.2:p.Val660Leu
ENST00000505350.2:c.*1930G>T	ENSP00000481752.1:n.*1930G>T
ENST00000507379.6:c.1870G>T	ENSP00000423224.2:p.Val624Leu
ENST00000509732.6:c.1924G>T	ENSP00000426541.2:p.Val642Leu
ENST00000512211.7:c.1924G>T	ENSP00000423828.3:p.Val642Leu
ENST00000257430.9:c.1924G>T MANE Select	ENSP00000257430.4:p.Val642Leu
ENST00000257430.8:c.1924G>T	ENSP00000257430.4:p.Val642Leu
ENST00000502371.2:c.277G>T
ENST00000504915.2:c.613G>T	ENSP00000473355.1:p.Val205Leu
ENST00000507379.5:c.1870G>T	ENSP00000423224.1:p.Val624Leu
ENST00000508376.6:c.1924G>T	ENSP00000427089.2:p.Val642Leu
ENST00000508624.5:c.*1246G>T	ENSP00000424265.1:n.*1246G>T
ENST00000512211.6:c.1924G>T	ENSP00000423828.2:p.Val642Leu
ENST00000520401.1:c.230+6159G>T
NM_000038.5:c.1924G>T	NP_000029.2:p.Val642Leu
NM_001127510.2:c.1924G>T	NP_001120982.1:p.Val642Leu
NM_001127511.2:c.1870G>T	NP_001120983.2:p.Val624Leu
NM_001354895.1:c.1924G>T	NP_001341824.1:p.Val642Leu
NM_001354896.1:c.1978G>T	NP_001341825.1:p.Val660Leu
NM_001354897.1:c.1954G>T	NP_001341826.1:p.Val652Leu
NM_001354898.1:c.1849G>T	NP_001341827.1:p.Val617Leu
NM_001354899.1:c.1840G>T	NP_001341828.1:p.Val614Leu
NM_001354900.1:c.1801G>T	NP_001341829.1:p.Val601Leu
NM_001354901.1:c.1747G>T	NP_001341830.1:p.Val583Leu
NM_001354902.1:c.1651G>T	NP_001341831.1:p.Val551Leu
NM_001354903.1:c.1621G>T	NP_001341832.1:p.Val541Leu
NM_001354904.1:c.1546G>T	NP_001341833.1:p.Val516Leu
NM_001354905.1:c.1444G>T	NP_001341834.1:p.Val482Leu
NM_001354906.1:c.1075G>T	NP_001341835.1:p.Val359Leu
NM_000038.6:c.1924G>T MANE Select	NP_000029.2:p.Val642Leu
NM_001127510.3:c.1924G>T	NP_001120982.1:p.Val642Leu
NM_001127511.3:c.1870G>T	NP_001120983.2:p.Val624Leu
NM_001354895.2:c.1924G>T	NP_001341824.1:p.Val642Leu
NM_001354896.2:c.1978G>T	NP_001341825.1:p.Val660Leu
NM_001354897.2:c.1954G>T	NP_001341826.1:p.Val652Leu
NM_001354898.2:c.1849G>T	NP_001341827.1:p.Val617Leu
NM_001354899.2:c.1840G>T	NP_001341828.1:p.Val614Leu
NM_001354900.2:c.1801G>T	NP_001341829.1:p.Val601Leu
NM_001354901.2:c.1747G>T	NP_001341830.1:p.Val583Leu
NM_001354902.2:c.1651G>T	NP_001341831.1:p.Val551Leu
NM_001354903.2:c.1621G>T	NP_001341832.1:p.Val541Leu
NM_001354904.2:c.1546G>T	NP_001341833.1:p.Val516Leu
NM_001354905.2:c.1444G>T	NP_001341834.1:p.Val482Leu
NM_001354906.2:c.1075G>T	NP_001341835.1:p.Val359Leu