Canonical Allele Identifier: CA1573442769

Gene: APC

Linked Data

• ClinVar Variation Id: 1005070
• ClinVar RCV Id: RCV002241770
• dbSNP Id: rs1189155420

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707840G>C , CM000667.2:g.112707840G>C	GRCh38
NC_000005.9:g.112043537G>C , CM000667.1:g.112043537G>C	GRCh37
NC_000005.8:g.112071436G>C	NCBI36
NG_008481.4:g.20320G>C , LRG_130:g.20320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.123G>C	ENSP00000481752.1:p.Pro41=
ENST00000507379.6:c.123G>C	ENSP00000423224.2:p.Pro41=
ENST00000509732.6:c.-19+191G>C	ENSP00000426541.2:n.-19+191G>C
ENST00000505350.1:c.123G>C	ENSP00000481752.1:p.Pro41=
ENST00000507379.5:c.123G>C	ENSP00000423224.1:p.Pro41=
ENST00000509732.5:c.-19+191G>C	ENSP00000426541.1:n.-19+191G>C
NM_001127511.2:c.123G>C	NP_001120983.2:p.Pro41=
NM_001354895.1:c.-61G>C	NP_001341824.1:n.-61G>C
NM_001354897.1:c.123G>C	NP_001341826.1:p.Pro41=
NM_001354902.1:c.123G>C	NP_001341831.1:p.Pro41=
NM_001127511.3:c.123G>C	NP_001120983.2:p.Pro41=
NM_001354895.2:c.-61G>C	NP_001341824.1:n.-61G>C
NM_001354897.2:c.123G>C	NP_001341826.1:p.Pro41=
NM_001354902.2:c.123G>C	NP_001341831.1:p.Pro41=