Canonical Allele Identifier: CA124977678

Gene: APC

Linked Data

• dbSNP Id: rs188286072
• gnomAD v2: 5-112164213-G-A
• gnomAD v3: 5-112828516-G-A
• gnomAD v4: 5-112828516-G-A
• MyVariant Identifiers: chr5:g.112164213G>A (hg19) ; chr5:g.112828516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828516G>A , CM000667.2:g.112828516G>A	GRCh38
NC_000005.9:g.112164213G>A , CM000667.1:g.112164213G>A	GRCh37
NC_000005.8:g.112192112G>A	NCBI36
NG_008481.4:g.140996G>A , LRG_130:g.140996G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6435G>A	ENSP00000484935.2:n.1409-6435G>A
ENST00000504915.3:c.1681-340G>A	ENSP00000473355.2:n.1681-340G>A
ENST00000505084.2:n.1683-340G>A
ENST00000505350.2:c.*1633-340G>A	ENSP00000481752.1:n.*1633-340G>A
ENST00000507379.6:c.1573-340G>A	ENSP00000423224.2:n.1573-340G>A
ENST00000509732.6:c.1627-340G>A	ENSP00000426541.2:n.1627-340G>A
ENST00000512211.7:c.1627-340G>A	ENSP00000423828.3:n.1627-340G>A
ENST00000257430.9:c.1627-340G>A MANE Select	ENSP00000257430.4:n.1627-340G>A
ENST00000257430.8:c.1627-340G>A	ENSP00000257430.4:n.1627-340G>A
ENST00000502371.2:c.97-6435G>A
ENST00000504915.2:c.316-340G>A	ENSP00000473355.1:n.316-340G>A
ENST00000505084.1:n.114-340G>A
ENST00000507379.5:c.1573-340G>A	ENSP00000423224.1:n.1573-340G>A
ENST00000508376.6:c.1627-340G>A	ENSP00000427089.2:n.1627-340G>A
ENST00000508624.5:c.*949-340G>A	ENSP00000424265.1:n.*949-340G>A
ENST00000512211.6:c.1627-340G>A	ENSP00000423828.2:n.1627-340G>A
ENST00000520401.1:c.114-340G>A
NM_000038.5:c.1627-340G>A	NP_000029.2:n.1627-340G>A
NM_001127510.2:c.1627-340G>A	NP_001120982.1:n.1627-340G>A
NM_001127511.2:c.1573-340G>A	NP_001120983.2:n.1573-340G>A
NM_001354895.1:c.1627-340G>A	NP_001341824.1:n.1627-340G>A
NM_001354896.1:c.1681-340G>A	NP_001341825.1:n.1681-340G>A
NM_001354897.1:c.1657-340G>A	NP_001341826.1:n.1657-340G>A
NM_001354898.1:c.1552-340G>A	NP_001341827.1:n.1552-340G>A
NM_001354899.1:c.1543-340G>A	NP_001341828.1:n.1543-340G>A
NM_001354900.1:c.1504-340G>A	NP_001341829.1:n.1504-340G>A
NM_001354901.1:c.1450-340G>A	NP_001341830.1:n.1450-340G>A
NM_001354902.1:c.1354-340G>A	NP_001341831.1:n.1354-340G>A
NM_001354903.1:c.1324-340G>A	NP_001341832.1:n.1324-340G>A
NM_001354904.1:c.1249-340G>A	NP_001341833.1:n.1249-340G>A
NM_001354905.1:c.1147-340G>A	NP_001341834.1:n.1147-340G>A
NM_001354906.1:c.778-340G>A	NP_001341835.1:n.778-340G>A
NM_000038.6:c.1627-340G>A MANE Select	NP_000029.2:n.1627-340G>A
NM_001127510.3:c.1627-340G>A	NP_001120982.1:n.1627-340G>A
NM_001127511.3:c.1573-340G>A	NP_001120983.2:n.1573-340G>A
NM_001354895.2:c.1627-340G>A	NP_001341824.1:n.1627-340G>A
NM_001354896.2:c.1681-340G>A	NP_001341825.1:n.1681-340G>A
NM_001354897.2:c.1657-340G>A	NP_001341826.1:n.1657-340G>A
NM_001354898.2:c.1552-340G>A	NP_001341827.1:n.1552-340G>A
NM_001354899.2:c.1543-340G>A	NP_001341828.1:n.1543-340G>A
NM_001354900.2:c.1504-340G>A	NP_001341829.1:n.1504-340G>A
NM_001354901.2:c.1450-340G>A	NP_001341830.1:n.1450-340G>A
NM_001354902.2:c.1354-340G>A	NP_001341831.1:n.1354-340G>A
NM_001354903.2:c.1324-340G>A	NP_001341832.1:n.1324-340G>A
NM_001354904.2:c.1249-340G>A	NP_001341833.1:n.1249-340G>A
NM_001354905.2:c.1147-340G>A	NP_001341834.1:n.1147-340G>A
NM_001354906.2:c.778-340G>A	NP_001341835.1:n.778-340G>A