Canonical Allele Identifier: CA16032682

Gene: APC

Linked Data

• ClinVar Variation Id: 627841
• ClinVar RCV Id: RCV000771706 ; RCV002536621 ; RCV003999959
• dbSNP Id: rs752065261
• gnomAD v4: 5-112840788-A-T
• MyVariant Identifiers: chr5:g.112176485A>T (hg19) ; chr5:g.112840788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840788A>T , CM000667.2:g.112840788A>T	GRCh38
NC_000005.9:g.112176485A>T , CM000667.1:g.112176485A>T	GRCh37
NC_000005.8:g.112204384A>T	NCBI36
NG_008481.4:g.153268A>T , LRG_130:g.153268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5248A>T	ENSP00000473355.2:p.Met1750Leu
ENST00000505350.2:c.*5200A>T	ENSP00000481752.1:n.*5200A>T
ENST00000507379.6:c.5140A>T	ENSP00000423224.2:p.Met1714Leu
ENST00000509732.6:c.5194A>T	ENSP00000426541.2:p.Met1732Leu
ENST00000512211.7:c.5194A>T	ENSP00000423828.3:p.Met1732Leu
ENST00000257430.9:c.5194A>T MANE Select	ENSP00000257430.4:p.Met1732Leu
ENST00000257430.8:c.5194A>T	ENSP00000257430.4:p.Met1732Leu
ENST00000508376.6:c.5194A>T	ENSP00000427089.2:p.Met1732Leu
ENST00000508624.5:c.*4516A>T	ENSP00000424265.1:n.*4516A>T
ENST00000520401.1:c.230+11816A>T
NM_000038.5:c.5194A>T	NP_000029.2:p.Met1732Leu
NM_001127510.2:c.5194A>T	NP_001120982.1:p.Met1732Leu
NM_001127511.2:c.5140A>T	NP_001120983.2:p.Met1714Leu
NM_001354895.1:c.5194A>T	NP_001341824.1:p.Met1732Leu
NM_001354896.1:c.5248A>T	NP_001341825.1:p.Met1750Leu
NM_001354897.1:c.5224A>T	NP_001341826.1:p.Met1742Leu
NM_001354898.1:c.5119A>T	NP_001341827.1:p.Met1707Leu
NM_001354899.1:c.5110A>T	NP_001341828.1:p.Met1704Leu
NM_001354900.1:c.5071A>T	NP_001341829.1:p.Met1691Leu
NM_001354901.1:c.5017A>T	NP_001341830.1:p.Met1673Leu
NM_001354902.1:c.4921A>T	NP_001341831.1:p.Met1641Leu
NM_001354903.1:c.4891A>T	NP_001341832.1:p.Met1631Leu
NM_001354904.1:c.4816A>T	NP_001341833.1:p.Met1606Leu
NM_001354905.1:c.4714A>T	NP_001341834.1:p.Met1572Leu
NM_001354906.1:c.4345A>T	NP_001341835.1:p.Met1449Leu
NM_000038.6:c.5194A>T MANE Select	NP_000029.2:p.Met1732Leu
NM_001127510.3:c.5194A>T	NP_001120982.1:p.Met1732Leu
NM_001127511.3:c.5140A>T	NP_001120983.2:p.Met1714Leu
NM_001354895.2:c.5194A>T	NP_001341824.1:p.Met1732Leu
NM_001354896.2:c.5248A>T	NP_001341825.1:p.Met1750Leu
NM_001354897.2:c.5224A>T	NP_001341826.1:p.Met1742Leu
NM_001354898.2:c.5119A>T	NP_001341827.1:p.Met1707Leu
NM_001354899.2:c.5110A>T	NP_001341828.1:p.Met1704Leu
NM_001354900.2:c.5071A>T	NP_001341829.1:p.Met1691Leu
NM_001354901.2:c.5017A>T	NP_001341830.1:p.Met1673Leu
NM_001354902.2:c.4921A>T	NP_001341831.1:p.Met1641Leu
NM_001354903.2:c.4891A>T	NP_001341832.1:p.Met1631Leu
NM_001354904.2:c.4816A>T	NP_001341833.1:p.Met1606Leu
NM_001354905.2:c.4714A>T	NP_001341834.1:p.Met1572Leu
NM_001354906.2:c.4345A>T	NP_001341835.1:p.Met1449Leu