Canonical Allele Identifier: CA16032085

Gene: APC

Linked Data

• ClinVar Variation Id: 993041
• ClinVar RCV Id: RCV001283864
• dbSNP Id: rs1765803734
• MyVariant Identifiers: chr5:g.112176200G>C (hg19) ; chr5:g.112840503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840503G>C , CM000667.2:g.112840503G>C	GRCh38
NC_000005.9:g.112176200G>C , CM000667.1:g.112176200G>C	GRCh37
NC_000005.8:g.112204099G>C	NCBI36
NG_008481.4:g.152983G>C , LRG_130:g.152983G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4963G>C	ENSP00000473355.2:p.Asp1655His
ENST00000505350.2:c.*4915G>C	ENSP00000481752.1:n.*4915G>C
ENST00000507379.6:c.4855G>C	ENSP00000423224.2:p.Asp1619His
ENST00000509732.6:c.4909G>C	ENSP00000426541.2:p.Asp1637His
ENST00000512211.7:c.4909G>C	ENSP00000423828.3:p.Asp1637His
ENST00000257430.9:c.4909G>C MANE Select	ENSP00000257430.4:p.Asp1637His
ENST00000257430.8:c.4909G>C	ENSP00000257430.4:p.Asp1637His
ENST00000508376.6:c.4909G>C	ENSP00000427089.2:p.Asp1637His
ENST00000508624.5:c.*4231G>C	ENSP00000424265.1:n.*4231G>C
ENST00000520401.1:c.230+11531G>C
NM_000038.5:c.4909G>C	NP_000029.2:p.Asp1637His
NM_001127510.2:c.4909G>C	NP_001120982.1:p.Asp1637His
NM_001127511.2:c.4855G>C	NP_001120983.2:p.Asp1619His
NM_001354895.1:c.4909G>C	NP_001341824.1:p.Asp1637His
NM_001354896.1:c.4963G>C	NP_001341825.1:p.Asp1655His
NM_001354897.1:c.4939G>C	NP_001341826.1:p.Asp1647His
NM_001354898.1:c.4834G>C	NP_001341827.1:p.Asp1612His
NM_001354899.1:c.4825G>C	NP_001341828.1:p.Asp1609His
NM_001354900.1:c.4786G>C	NP_001341829.1:p.Asp1596His
NM_001354901.1:c.4732G>C	NP_001341830.1:p.Asp1578His
NM_001354902.1:c.4636G>C	NP_001341831.1:p.Asp1546His
NM_001354903.1:c.4606G>C	NP_001341832.1:p.Asp1536His
NM_001354904.1:c.4531G>C	NP_001341833.1:p.Asp1511His
NM_001354905.1:c.4429G>C	NP_001341834.1:p.Asp1477His
NM_001354906.1:c.4060G>C	NP_001341835.1:p.Asp1354His
NM_000038.6:c.4909G>C MANE Select	NP_000029.2:p.Asp1637His
NM_001127510.3:c.4909G>C	NP_001120982.1:p.Asp1637His
NM_001127511.3:c.4855G>C	NP_001120983.2:p.Asp1619His
NM_001354895.2:c.4909G>C	NP_001341824.1:p.Asp1637His
NM_001354896.2:c.4963G>C	NP_001341825.1:p.Asp1655His
NM_001354897.2:c.4939G>C	NP_001341826.1:p.Asp1647His
NM_001354898.2:c.4834G>C	NP_001341827.1:p.Asp1612His
NM_001354899.2:c.4825G>C	NP_001341828.1:p.Asp1609His
NM_001354900.2:c.4786G>C	NP_001341829.1:p.Asp1596His
NM_001354901.2:c.4732G>C	NP_001341830.1:p.Asp1578His
NM_001354902.2:c.4636G>C	NP_001341831.1:p.Asp1546His
NM_001354903.2:c.4606G>C	NP_001341832.1:p.Asp1536His
NM_001354904.2:c.4531G>C	NP_001341833.1:p.Asp1511His
NM_001354905.2:c.4429G>C	NP_001341834.1:p.Asp1477His
NM_001354906.2:c.4060G>C	NP_001341835.1:p.Asp1354His