Canonical Allele Identifier: CA050906

Gene: APC

Linked Data

• ClinVar Variation Id: 470146
• ClinVar RCV Id: RCV000659278 ; RCV000570304 ; RCV003744539
• dbSNP Id: rs773513581
• ExAC: 5:112179783 C / T
• gnomAD v2: 5-112179783-C-T
• gnomAD v4: 5-112844086-C-T
• MyVariant Identifiers: chr5:g.112179783C>T (hg19) ; chr5:g.112844086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112844086C>T , CM000667.2:g.112844086C>T	GRCh38
NC_000005.9:g.112179783C>T , CM000667.1:g.112179783C>T	GRCh37
NC_000005.8:g.112207682C>T	NCBI36
NG_008481.4:g.156566C>T , LRG_130:g.156566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8546C>T	ENSP00000473355.2:p.Pro2849Leu
ENST00000505350.2:c.*8498C>T	ENSP00000481752.1:n.*8498C>T
ENST00000507379.6:c.8438C>T	ENSP00000423224.2:p.Pro2813Leu
ENST00000509732.6:c.8492C>T	ENSP00000426541.2:p.Pro2831Leu
ENST00000512211.7:c.8492C>T	ENSP00000423828.3:p.Pro2831Leu
ENST00000257430.9:c.8492C>T MANE Select	ENSP00000257430.4:p.Pro2831Leu
ENST00000257430.8:c.8492C>T	ENSP00000257430.4:p.Pro2831Leu
ENST00000508376.6:c.8492C>T	ENSP00000427089.2:p.Pro2831Leu
ENST00000520401.1:c.231-12563C>T
NM_000038.5:c.8492C>T	NP_000029.2:p.Pro2831Leu
NM_001127510.2:c.8492C>T	NP_001120982.1:p.Pro2831Leu
NM_001127511.2:c.8438C>T	NP_001120983.2:p.Pro2813Leu
NM_001354895.1:c.8492C>T	NP_001341824.1:p.Pro2831Leu
NM_001354896.1:c.8546C>T	NP_001341825.1:p.Pro2849Leu
NM_001354897.1:c.8522C>T	NP_001341826.1:p.Pro2841Leu
NM_001354898.1:c.8417C>T	NP_001341827.1:p.Pro2806Leu
NM_001354899.1:c.8408C>T	NP_001341828.1:p.Pro2803Leu
NM_001354900.1:c.8369C>T	NP_001341829.1:p.Pro2790Leu
NM_001354901.1:c.8315C>T	NP_001341830.1:p.Pro2772Leu
NM_001354902.1:c.8219C>T	NP_001341831.1:p.Pro2740Leu
NM_001354903.1:c.8189C>T	NP_001341832.1:p.Pro2730Leu
NM_001354904.1:c.8114C>T	NP_001341833.1:p.Pro2705Leu
NM_001354905.1:c.8012C>T	NP_001341834.1:p.Pro2671Leu
NM_001354906.1:c.7643C>T	NP_001341835.1:p.Pro2548Leu
NM_000038.6:c.8492C>T MANE Select	NP_000029.2:p.Pro2831Leu
NM_001127510.3:c.8492C>T	NP_001120982.1:p.Pro2831Leu
NM_001127511.3:c.8438C>T	NP_001120983.2:p.Pro2813Leu
NM_001354895.2:c.8492C>T	NP_001341824.1:p.Pro2831Leu
NM_001354896.2:c.8546C>T	NP_001341825.1:p.Pro2849Leu
NM_001354897.2:c.8522C>T	NP_001341826.1:p.Pro2841Leu
NM_001354898.2:c.8417C>T	NP_001341827.1:p.Pro2806Leu
NM_001354899.2:c.8408C>T	NP_001341828.1:p.Pro2803Leu
NM_001354900.2:c.8369C>T	NP_001341829.1:p.Pro2790Leu
NM_001354901.2:c.8315C>T	NP_001341830.1:p.Pro2772Leu
NM_001354902.2:c.8219C>T	NP_001341831.1:p.Pro2740Leu
NM_001354903.2:c.8189C>T	NP_001341832.1:p.Pro2730Leu
NM_001354904.2:c.8114C>T	NP_001341833.1:p.Pro2705Leu
NM_001354905.2:c.8012C>T	NP_001341834.1:p.Pro2671Leu
NM_001354906.2:c.7643C>T	NP_001341835.1:p.Pro2548Leu