Canonical Allele Identifier: CA446211164

Gene: APC

Linked Data

• ClinVar Variation Id: 1671982
• ClinVar RCV Id: RCV003774127
• dbSNP Id: rs2149992607
• MyVariant Identifiers: chr5:g.112179013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843316T>C , CM000667.2:g.112843316T>C	GRCh38
NC_000005.9:g.112179013T>C , CM000667.1:g.112179013T>C	GRCh37
NC_000005.8:g.112206912T>C	NCBI36
NG_008481.4:g.155796T>C , LRG_130:g.155796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7776T>C	ENSP00000473355.2:p.Leu2592=
ENST00000505350.2:c.*7728T>C	ENSP00000481752.1:n.*7728T>C
ENST00000507379.6:c.7668T>C	ENSP00000423224.2:p.Leu2556=
ENST00000509732.6:c.7722T>C	ENSP00000426541.2:p.Leu2574=
ENST00000512211.7:c.7722T>C	ENSP00000423828.3:p.Leu2574=
ENST00000257430.9:c.7722T>C MANE Select	ENSP00000257430.4:p.Leu2574=
ENST00000257430.8:c.7722T>C	ENSP00000257430.4:p.Leu2574=
ENST00000508376.6:c.7722T>C	ENSP00000427089.2:p.Leu2574=
ENST00000520401.1:c.231-13333T>C
NM_000038.5:c.7722T>C	NP_000029.2:p.Leu2574=
NM_001127510.2:c.7722T>C	NP_001120982.1:p.Leu2574=
NM_001127511.2:c.7668T>C	NP_001120983.2:p.Leu2556=
NM_001354895.1:c.7722T>C	NP_001341824.1:p.Leu2574=
NM_001354896.1:c.7776T>C	NP_001341825.1:p.Leu2592=
NM_001354897.1:c.7752T>C	NP_001341826.1:p.Leu2584=
NM_001354898.1:c.7647T>C	NP_001341827.1:p.Leu2549=
NM_001354899.1:c.7638T>C	NP_001341828.1:p.Leu2546=
NM_001354900.1:c.7599T>C	NP_001341829.1:p.Leu2533=
NM_001354901.1:c.7545T>C	NP_001341830.1:p.Leu2515=
NM_001354902.1:c.7449T>C	NP_001341831.1:p.Leu2483=
NM_001354903.1:c.7419T>C	NP_001341832.1:p.Leu2473=
NM_001354904.1:c.7344T>C	NP_001341833.1:p.Leu2448=
NM_001354905.1:c.7242T>C	NP_001341834.1:p.Leu2414=
NM_001354906.1:c.6873T>C	NP_001341835.1:p.Leu2291=
NM_000038.6:c.7722T>C MANE Select	NP_000029.2:p.Leu2574=
NM_001127510.3:c.7722T>C	NP_001120982.1:p.Leu2574=
NM_001127511.3:c.7668T>C	NP_001120983.2:p.Leu2556=
NM_001354895.2:c.7722T>C	NP_001341824.1:p.Leu2574=
NM_001354896.2:c.7776T>C	NP_001341825.1:p.Leu2592=
NM_001354897.2:c.7752T>C	NP_001341826.1:p.Leu2584=
NM_001354898.2:c.7647T>C	NP_001341827.1:p.Leu2549=
NM_001354899.2:c.7638T>C	NP_001341828.1:p.Leu2546=
NM_001354900.2:c.7599T>C	NP_001341829.1:p.Leu2533=
NM_001354901.2:c.7545T>C	NP_001341830.1:p.Leu2515=
NM_001354902.2:c.7449T>C	NP_001341831.1:p.Leu2483=
NM_001354903.2:c.7419T>C	NP_001341832.1:p.Leu2473=
NM_001354904.2:c.7344T>C	NP_001341833.1:p.Leu2448=
NM_001354905.2:c.7242T>C	NP_001341834.1:p.Leu2414=
NM_001354906.2:c.6873T>C	NP_001341835.1:p.Leu2291=