Canonical Allele Identifier: CA16031862

Gene: APC

Linked Data

• ClinVar Variation Id: 802144
• ClinVar RCV Id: RCV000987575
• dbSNP Id: rs1580652844
• gnomAD v4: 5-112840399-C-A
• MyVariant Identifiers: chr5:g.112176096C>A (hg19) ; chr5:g.112840399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840399C>A , CM000667.2:g.112840399C>A	GRCh38
NC_000005.9:g.112176096C>A , CM000667.1:g.112176096C>A	GRCh37
NC_000005.8:g.112203995C>A	NCBI36
NG_008481.4:g.152879C>A , LRG_130:g.152879C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4859C>A	ENSP00000473355.2:p.Pro1620His
ENST00000505350.2:c.*4811C>A	ENSP00000481752.1:n.*4811C>A
ENST00000507379.6:c.4751C>A	ENSP00000423224.2:p.Pro1584His
ENST00000509732.6:c.4805C>A	ENSP00000426541.2:p.Pro1602His
ENST00000512211.7:c.4805C>A	ENSP00000423828.3:p.Pro1602His
ENST00000257430.9:c.4805C>A MANE Select	ENSP00000257430.4:p.Pro1602His
ENST00000257430.8:c.4805C>A	ENSP00000257430.4:p.Pro1602His
ENST00000508376.6:c.4805C>A	ENSP00000427089.2:p.Pro1602His
ENST00000508624.5:c.*4127C>A	ENSP00000424265.1:n.*4127C>A
ENST00000520401.1:c.230+11427C>A
NM_000038.5:c.4805C>A	NP_000029.2:p.Pro1602His
NM_001127510.2:c.4805C>A	NP_001120982.1:p.Pro1602His
NM_001127511.2:c.4751C>A	NP_001120983.2:p.Pro1584His
NM_001354895.1:c.4805C>A	NP_001341824.1:p.Pro1602His
NM_001354896.1:c.4859C>A	NP_001341825.1:p.Pro1620His
NM_001354897.1:c.4835C>A	NP_001341826.1:p.Pro1612His
NM_001354898.1:c.4730C>A	NP_001341827.1:p.Pro1577His
NM_001354899.1:c.4721C>A	NP_001341828.1:p.Pro1574His
NM_001354900.1:c.4682C>A	NP_001341829.1:p.Pro1561His
NM_001354901.1:c.4628C>A	NP_001341830.1:p.Pro1543His
NM_001354902.1:c.4532C>A	NP_001341831.1:p.Pro1511His
NM_001354903.1:c.4502C>A	NP_001341832.1:p.Pro1501His
NM_001354904.1:c.4427C>A	NP_001341833.1:p.Pro1476His
NM_001354905.1:c.4325C>A	NP_001341834.1:p.Pro1442His
NM_001354906.1:c.3956C>A	NP_001341835.1:p.Pro1319His
NM_000038.6:c.4805C>A MANE Select	NP_000029.2:p.Pro1602His
NM_001127510.3:c.4805C>A	NP_001120982.1:p.Pro1602His
NM_001127511.3:c.4751C>A	NP_001120983.2:p.Pro1584His
NM_001354895.2:c.4805C>A	NP_001341824.1:p.Pro1602His
NM_001354896.2:c.4859C>A	NP_001341825.1:p.Pro1620His
NM_001354897.2:c.4835C>A	NP_001341826.1:p.Pro1612His
NM_001354898.2:c.4730C>A	NP_001341827.1:p.Pro1577His
NM_001354899.2:c.4721C>A	NP_001341828.1:p.Pro1574His
NM_001354900.2:c.4682C>A	NP_001341829.1:p.Pro1561His
NM_001354901.2:c.4628C>A	NP_001341830.1:p.Pro1543His
NM_001354902.2:c.4532C>A	NP_001341831.1:p.Pro1511His
NM_001354903.2:c.4502C>A	NP_001341832.1:p.Pro1501His
NM_001354904.2:c.4427C>A	NP_001341833.1:p.Pro1476His
NM_001354905.2:c.4325C>A	NP_001341834.1:p.Pro1442His
NM_001354906.2:c.3956C>A	NP_001341835.1:p.Pro1319His