Canonical Allele Identifier: CA16028628

Gene: APC

Linked Data

• ClinVar Variation Id: 1730254
• ClinVar RCV Id: RCV002326430
• dbSNP Id: rs530923279
• MyVariant Identifiers: chr5:g.112174617G>T (hg19) ; chr5:g.112838920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838920G>T , CM000667.2:g.112838920G>T	GRCh38
NC_000005.9:g.112174617G>T , CM000667.1:g.112174617G>T	GRCh37
NC_000005.8:g.112202516G>T	NCBI36
NG_008481.4:g.151400G>T , LRG_130:g.151400G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2991G>T	ENSP00000484935.2:n.2991G>T
ENST00000504915.3:c.3380G>T	ENSP00000473355.2:p.Gly1127Val
ENST00000505350.2:c.*3332G>T	ENSP00000481752.1:n.*3332G>T
ENST00000507379.6:c.3272G>T	ENSP00000423224.2:p.Gly1091Val
ENST00000509732.6:c.3326G>T	ENSP00000426541.2:p.Gly1109Val
ENST00000512211.7:c.3326G>T	ENSP00000423828.3:p.Gly1109Val
ENST00000257430.9:c.3326G>T MANE Select	ENSP00000257430.4:p.Gly1109Val
ENST00000257430.8:c.3326G>T	ENSP00000257430.4:p.Gly1109Val
ENST00000502371.2:c.1679G>T
ENST00000507379.5:c.3272G>T	ENSP00000423224.1:p.Gly1091Val
ENST00000508376.6:c.3326G>T	ENSP00000427089.2:p.Gly1109Val
ENST00000508624.5:c.*2648G>T	ENSP00000424265.1:n.*2648G>T
ENST00000512211.6:c.3326G>T	ENSP00000423828.2:p.Gly1109Val
ENST00000520401.1:c.230+9948G>T
NM_000038.5:c.3326G>T	NP_000029.2:p.Gly1109Val
NM_001127510.2:c.3326G>T	NP_001120982.1:p.Gly1109Val
NM_001127511.2:c.3272G>T	NP_001120983.2:p.Gly1091Val
NM_001354895.1:c.3326G>T	NP_001341824.1:p.Gly1109Val
NM_001354896.1:c.3380G>T	NP_001341825.1:p.Gly1127Val
NM_001354897.1:c.3356G>T	NP_001341826.1:p.Gly1119Val
NM_001354898.1:c.3251G>T	NP_001341827.1:p.Gly1084Val
NM_001354899.1:c.3242G>T	NP_001341828.1:p.Gly1081Val
NM_001354900.1:c.3203G>T	NP_001341829.1:p.Gly1068Val
NM_001354901.1:c.3149G>T	NP_001341830.1:p.Gly1050Val
NM_001354902.1:c.3053G>T	NP_001341831.1:p.Gly1018Val
NM_001354903.1:c.3023G>T	NP_001341832.1:p.Gly1008Val
NM_001354904.1:c.2948G>T	NP_001341833.1:p.Gly983Val
NM_001354905.1:c.2846G>T	NP_001341834.1:p.Gly949Val
NM_001354906.1:c.2477G>T	NP_001341835.1:p.Gly826Val
NM_000038.6:c.3326G>T MANE Select	NP_000029.2:p.Gly1109Val
NM_001127510.3:c.3326G>T	NP_001120982.1:p.Gly1109Val
NM_001127511.3:c.3272G>T	NP_001120983.2:p.Gly1091Val
NM_001354895.2:c.3326G>T	NP_001341824.1:p.Gly1109Val
NM_001354896.2:c.3380G>T	NP_001341825.1:p.Gly1127Val
NM_001354897.2:c.3356G>T	NP_001341826.1:p.Gly1119Val
NM_001354898.2:c.3251G>T	NP_001341827.1:p.Gly1084Val
NM_001354899.2:c.3242G>T	NP_001341828.1:p.Gly1081Val
NM_001354900.2:c.3203G>T	NP_001341829.1:p.Gly1068Val
NM_001354901.2:c.3149G>T	NP_001341830.1:p.Gly1050Val
NM_001354902.2:c.3053G>T	NP_001341831.1:p.Gly1018Val
NM_001354903.2:c.3023G>T	NP_001341832.1:p.Gly1008Val
NM_001354904.2:c.2948G>T	NP_001341833.1:p.Gly983Val
NM_001354905.2:c.2846G>T	NP_001341834.1:p.Gly949Val
NM_001354906.2:c.2477G>T	NP_001341835.1:p.Gly826Val