Canonical Allele Identifier: CA16032442

Gene: APC

Linked Data

• dbSNP Id: rs2149931526
• gnomAD v4: 5-112840675-G-T
• MyVariant Identifiers: chr5:g.112176372G>T (hg19) ; chr5:g.112840675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840675G>T , CM000667.2:g.112840675G>T	GRCh38
NC_000005.9:g.112176372G>T , CM000667.1:g.112176372G>T	GRCh37
NC_000005.8:g.112204271G>T	NCBI36
NG_008481.4:g.153155G>T , LRG_130:g.153155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5135G>T	ENSP00000473355.2:p.Gly1712Val
ENST00000505350.2:c.*5087G>T	ENSP00000481752.1:n.*5087G>T
ENST00000507379.6:c.5027G>T	ENSP00000423224.2:p.Gly1676Val
ENST00000509732.6:c.5081G>T	ENSP00000426541.2:p.Gly1694Val
ENST00000512211.7:c.5081G>T	ENSP00000423828.3:p.Gly1694Val
ENST00000257430.9:c.5081G>T MANE Select	ENSP00000257430.4:p.Gly1694Val
ENST00000257430.8:c.5081G>T	ENSP00000257430.4:p.Gly1694Val
ENST00000508376.6:c.5081G>T	ENSP00000427089.2:p.Gly1694Val
ENST00000508624.5:c.*4403G>T	ENSP00000424265.1:n.*4403G>T
ENST00000520401.1:c.230+11703G>T
NM_000038.5:c.5081G>T	NP_000029.2:p.Gly1694Val
NM_001127510.2:c.5081G>T	NP_001120982.1:p.Gly1694Val
NM_001127511.2:c.5027G>T	NP_001120983.2:p.Gly1676Val
NM_001354895.1:c.5081G>T	NP_001341824.1:p.Gly1694Val
NM_001354896.1:c.5135G>T	NP_001341825.1:p.Gly1712Val
NM_001354897.1:c.5111G>T	NP_001341826.1:p.Gly1704Val
NM_001354898.1:c.5006G>T	NP_001341827.1:p.Gly1669Val
NM_001354899.1:c.4997G>T	NP_001341828.1:p.Gly1666Val
NM_001354900.1:c.4958G>T	NP_001341829.1:p.Gly1653Val
NM_001354901.1:c.4904G>T	NP_001341830.1:p.Gly1635Val
NM_001354902.1:c.4808G>T	NP_001341831.1:p.Gly1603Val
NM_001354903.1:c.4778G>T	NP_001341832.1:p.Gly1593Val
NM_001354904.1:c.4703G>T	NP_001341833.1:p.Gly1568Val
NM_001354905.1:c.4601G>T	NP_001341834.1:p.Gly1534Val
NM_001354906.1:c.4232G>T	NP_001341835.1:p.Gly1411Val
NM_000038.6:c.5081G>T MANE Select	NP_000029.2:p.Gly1694Val
NM_001127510.3:c.5081G>T	NP_001120982.1:p.Gly1694Val
NM_001127511.3:c.5027G>T	NP_001120983.2:p.Gly1676Val
NM_001354895.2:c.5081G>T	NP_001341824.1:p.Gly1694Val
NM_001354896.2:c.5135G>T	NP_001341825.1:p.Gly1712Val
NM_001354897.2:c.5111G>T	NP_001341826.1:p.Gly1704Val
NM_001354898.2:c.5006G>T	NP_001341827.1:p.Gly1669Val
NM_001354899.2:c.4997G>T	NP_001341828.1:p.Gly1666Val
NM_001354900.2:c.4958G>T	NP_001341829.1:p.Gly1653Val
NM_001354901.2:c.4904G>T	NP_001341830.1:p.Gly1635Val
NM_001354902.2:c.4808G>T	NP_001341831.1:p.Gly1603Val
NM_001354903.2:c.4778G>T	NP_001341832.1:p.Gly1593Val
NM_001354904.2:c.4703G>T	NP_001341833.1:p.Gly1568Val
NM_001354905.2:c.4601G>T	NP_001341834.1:p.Gly1534Val
NM_001354906.2:c.4232G>T	NP_001341835.1:p.Gly1411Val