Canonical Allele Identifier: CA360611747

Gene: APC

Linked Data

• ClinVar Variation Id: 469798
• ClinVar RCV Id: RCV003742637
• dbSNP Id: rs1554060278
• MyVariant Identifiers: chr5:g.112043460T>C (hg19) ; chr5:g.112707763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707763T>C , CM000667.2:g.112707763T>C	GRCh38
NC_000005.9:g.112043460T>C , CM000667.1:g.112043460T>C	GRCh37
NC_000005.8:g.112071359T>C	NCBI36
NG_008481.4:g.20243T>C , LRG_130:g.20243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.46T>C	ENSP00000481752.1:p.Ser16Pro
ENST00000507379.6:c.46T>C	ENSP00000423224.2:p.Ser16Pro
ENST00000509732.6:c.-19+114T>C	ENSP00000426541.2:n.-19+114T>C
ENST00000505350.1:c.46T>C	ENSP00000481752.1:p.Ser16Pro
ENST00000507379.5:c.46T>C	ENSP00000423224.1:p.Ser16Pro
ENST00000509732.5:c.-19+114T>C	ENSP00000426541.1:n.-19+114T>C
NM_001127511.2:c.46T>C	NP_001120983.2:p.Ser16Pro
NM_001354895.1:c.-138T>C	NP_001341824.1:n.-138T>C
NM_001354897.1:c.46T>C	NP_001341826.1:p.Ser16Pro
NM_001354902.1:c.46T>C	NP_001341831.1:p.Ser16Pro
NM_001127511.3:c.46T>C	NP_001120983.2:p.Ser16Pro
NM_001354895.2:c.-138T>C	NP_001341824.1:n.-138T>C
NM_001354897.2:c.46T>C	NP_001341826.1:p.Ser16Pro
NM_001354902.2:c.46T>C	NP_001341831.1:p.Ser16Pro