Canonical Allele Identifier: CA16031870

Gene: APC

Linked Data

• dbSNP Id: rs2149924288
• MyVariant Identifiers: chr5:g.112176099C>T (hg19) ; chr5:g.112840402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840402C>T , CM000667.2:g.112840402C>T	GRCh38
NC_000005.9:g.112176099C>T , CM000667.1:g.112176099C>T	GRCh37
NC_000005.8:g.112203998C>T	NCBI36
NG_008481.4:g.152882C>T , LRG_130:g.152882C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4862C>T	ENSP00000473355.2:p.Pro1621Leu
ENST00000505350.2:c.*4814C>T	ENSP00000481752.1:n.*4814C>T
ENST00000507379.6:c.4754C>T	ENSP00000423224.2:p.Pro1585Leu
ENST00000509732.6:c.4808C>T	ENSP00000426541.2:p.Pro1603Leu
ENST00000512211.7:c.4808C>T	ENSP00000423828.3:p.Pro1603Leu
ENST00000257430.9:c.4808C>T MANE Select	ENSP00000257430.4:p.Pro1603Leu
ENST00000257430.8:c.4808C>T	ENSP00000257430.4:p.Pro1603Leu
ENST00000508376.6:c.4808C>T	ENSP00000427089.2:p.Pro1603Leu
ENST00000508624.5:c.*4130C>T	ENSP00000424265.1:n.*4130C>T
ENST00000520401.1:c.230+11430C>T
NM_000038.5:c.4808C>T	NP_000029.2:p.Pro1603Leu
NM_001127510.2:c.4808C>T	NP_001120982.1:p.Pro1603Leu
NM_001127511.2:c.4754C>T	NP_001120983.2:p.Pro1585Leu
NM_001354895.1:c.4808C>T	NP_001341824.1:p.Pro1603Leu
NM_001354896.1:c.4862C>T	NP_001341825.1:p.Pro1621Leu
NM_001354897.1:c.4838C>T	NP_001341826.1:p.Pro1613Leu
NM_001354898.1:c.4733C>T	NP_001341827.1:p.Pro1578Leu
NM_001354899.1:c.4724C>T	NP_001341828.1:p.Pro1575Leu
NM_001354900.1:c.4685C>T	NP_001341829.1:p.Pro1562Leu
NM_001354901.1:c.4631C>T	NP_001341830.1:p.Pro1544Leu
NM_001354902.1:c.4535C>T	NP_001341831.1:p.Pro1512Leu
NM_001354903.1:c.4505C>T	NP_001341832.1:p.Pro1502Leu
NM_001354904.1:c.4430C>T	NP_001341833.1:p.Pro1477Leu
NM_001354905.1:c.4328C>T	NP_001341834.1:p.Pro1443Leu
NM_001354906.1:c.3959C>T	NP_001341835.1:p.Pro1320Leu
NM_000038.6:c.4808C>T MANE Select	NP_000029.2:p.Pro1603Leu
NM_001127510.3:c.4808C>T	NP_001120982.1:p.Pro1603Leu
NM_001127511.3:c.4754C>T	NP_001120983.2:p.Pro1585Leu
NM_001354895.2:c.4808C>T	NP_001341824.1:p.Pro1603Leu
NM_001354896.2:c.4862C>T	NP_001341825.1:p.Pro1621Leu
NM_001354897.2:c.4838C>T	NP_001341826.1:p.Pro1613Leu
NM_001354898.2:c.4733C>T	NP_001341827.1:p.Pro1578Leu
NM_001354899.2:c.4724C>T	NP_001341828.1:p.Pro1575Leu
NM_001354900.2:c.4685C>T	NP_001341829.1:p.Pro1562Leu
NM_001354901.2:c.4631C>T	NP_001341830.1:p.Pro1544Leu
NM_001354902.2:c.4535C>T	NP_001341831.1:p.Pro1512Leu
NM_001354903.2:c.4505C>T	NP_001341832.1:p.Pro1502Leu
NM_001354904.2:c.4430C>T	NP_001341833.1:p.Pro1477Leu
NM_001354905.2:c.4328C>T	NP_001341834.1:p.Pro1443Leu
NM_001354906.2:c.3959C>T	NP_001341835.1:p.Pro1320Leu