Canonical Allele Identifier: CA16038013

Gene: APC

Linked Data

• ClinVar Variation Id: 950600
• ClinVar RCV Id: RCV003650754
• dbSNP Id: rs1766540317
• MyVariant Identifiers: chr5:g.112178972G>T (hg19) ; chr5:g.112843275G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843275G>T , CM000667.2:g.112843275G>T	GRCh38
NC_000005.9:g.112178972G>T , CM000667.1:g.112178972G>T	GRCh37
NC_000005.8:g.112206871G>T	NCBI36
NG_008481.4:g.155755G>T , LRG_130:g.155755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7735G>T	ENSP00000473355.2:p.Val2579Leu
ENST00000505350.2:c.*7687G>T	ENSP00000481752.1:n.*7687G>T
ENST00000507379.6:c.7627G>T	ENSP00000423224.2:p.Val2543Leu
ENST00000509732.6:c.7681G>T	ENSP00000426541.2:p.Val2561Leu
ENST00000512211.7:c.7681G>T	ENSP00000423828.3:p.Val2561Leu
ENST00000257430.9:c.7681G>T MANE Select	ENSP00000257430.4:p.Val2561Leu
ENST00000257430.8:c.7681G>T	ENSP00000257430.4:p.Val2561Leu
ENST00000508376.6:c.7681G>T	ENSP00000427089.2:p.Val2561Leu
ENST00000520401.1:c.231-13374G>T
NM_000038.5:c.7681G>T	NP_000029.2:p.Val2561Leu
NM_001127510.2:c.7681G>T	NP_001120982.1:p.Val2561Leu
NM_001127511.2:c.7627G>T	NP_001120983.2:p.Val2543Leu
NM_001354895.1:c.7681G>T	NP_001341824.1:p.Val2561Leu
NM_001354896.1:c.7735G>T	NP_001341825.1:p.Val2579Leu
NM_001354897.1:c.7711G>T	NP_001341826.1:p.Val2571Leu
NM_001354898.1:c.7606G>T	NP_001341827.1:p.Val2536Leu
NM_001354899.1:c.7597G>T	NP_001341828.1:p.Val2533Leu
NM_001354900.1:c.7558G>T	NP_001341829.1:p.Val2520Leu
NM_001354901.1:c.7504G>T	NP_001341830.1:p.Val2502Leu
NM_001354902.1:c.7408G>T	NP_001341831.1:p.Val2470Leu
NM_001354903.1:c.7378G>T	NP_001341832.1:p.Val2460Leu
NM_001354904.1:c.7303G>T	NP_001341833.1:p.Val2435Leu
NM_001354905.1:c.7201G>T	NP_001341834.1:p.Val2401Leu
NM_001354906.1:c.6832G>T	NP_001341835.1:p.Val2278Leu
NM_000038.6:c.7681G>T MANE Select	NP_000029.2:p.Val2561Leu
NM_001127510.3:c.7681G>T	NP_001120982.1:p.Val2561Leu
NM_001127511.3:c.7627G>T	NP_001120983.2:p.Val2543Leu
NM_001354895.2:c.7681G>T	NP_001341824.1:p.Val2561Leu
NM_001354896.2:c.7735G>T	NP_001341825.1:p.Val2579Leu
NM_001354897.2:c.7711G>T	NP_001341826.1:p.Val2571Leu
NM_001354898.2:c.7606G>T	NP_001341827.1:p.Val2536Leu
NM_001354899.2:c.7597G>T	NP_001341828.1:p.Val2533Leu
NM_001354900.2:c.7558G>T	NP_001341829.1:p.Val2520Leu
NM_001354901.2:c.7504G>T	NP_001341830.1:p.Val2502Leu
NM_001354902.2:c.7408G>T	NP_001341831.1:p.Val2470Leu
NM_001354903.2:c.7378G>T	NP_001341832.1:p.Val2460Leu
NM_001354904.2:c.7303G>T	NP_001341833.1:p.Val2435Leu
NM_001354905.2:c.7201G>T	NP_001341834.1:p.Val2401Leu
NM_001354906.2:c.6832G>T	NP_001341835.1:p.Val2278Leu