Canonical Allele Identifier: CA16029253

Gene: APC

Linked Data

• ClinVar Variation Id: 411470
• ClinVar RCV Id: RCV000479172 ; RCV000568797
• dbSNP Id: rs1057518472
• MyVariant Identifiers: chr5:g.112174898G>C (hg19) ; chr5:g.112839201G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839201G>C , CM000667.2:g.112839201G>C	GRCh38
NC_000005.9:g.112174898G>C , CM000667.1:g.112174898G>C	GRCh37
NC_000005.8:g.112202797G>C	NCBI36
NG_008481.4:g.151681G>C , LRG_130:g.151681G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3272G>C	ENSP00000484935.2:n.3272G>C
ENST00000504915.3:c.3661G>C	ENSP00000473355.2:p.Gly1221Arg
ENST00000505350.2:c.*3613G>C	ENSP00000481752.1:n.*3613G>C
ENST00000507379.6:c.3553G>C	ENSP00000423224.2:p.Gly1185Arg
ENST00000509732.6:c.3607G>C	ENSP00000426541.2:p.Gly1203Arg
ENST00000512211.7:c.3607G>C	ENSP00000423828.3:p.Gly1203Arg
ENST00000257430.9:c.3607G>C MANE Select	ENSP00000257430.4:p.Gly1203Arg
ENST00000257430.8:c.3607G>C	ENSP00000257430.4:p.Gly1203Arg
ENST00000502371.2:c.1960G>C
ENST00000508376.6:c.3607G>C	ENSP00000427089.2:p.Gly1203Arg
ENST00000508624.5:c.*2929G>C	ENSP00000424265.1:n.*2929G>C
ENST00000512211.6:c.3607G>C	ENSP00000423828.2:p.Gly1203Arg
ENST00000520401.1:c.230+10229G>C
NM_000038.5:c.3607G>C	NP_000029.2:p.Gly1203Arg
NM_001127510.2:c.3607G>C	NP_001120982.1:p.Gly1203Arg
NM_001127511.2:c.3553G>C	NP_001120983.2:p.Gly1185Arg
NM_001354895.1:c.3607G>C	NP_001341824.1:p.Gly1203Arg
NM_001354896.1:c.3661G>C	NP_001341825.1:p.Gly1221Arg
NM_001354897.1:c.3637G>C	NP_001341826.1:p.Gly1213Arg
NM_001354898.1:c.3532G>C	NP_001341827.1:p.Gly1178Arg
NM_001354899.1:c.3523G>C	NP_001341828.1:p.Gly1175Arg
NM_001354900.1:c.3484G>C	NP_001341829.1:p.Gly1162Arg
NM_001354901.1:c.3430G>C	NP_001341830.1:p.Gly1144Arg
NM_001354902.1:c.3334G>C	NP_001341831.1:p.Gly1112Arg
NM_001354903.1:c.3304G>C	NP_001341832.1:p.Gly1102Arg
NM_001354904.1:c.3229G>C	NP_001341833.1:p.Gly1077Arg
NM_001354905.1:c.3127G>C	NP_001341834.1:p.Gly1043Arg
NM_001354906.1:c.2758G>C	NP_001341835.1:p.Gly920Arg
NM_000038.6:c.3607G>C MANE Select	NP_000029.2:p.Gly1203Arg
NM_001127510.3:c.3607G>C	NP_001120982.1:p.Gly1203Arg
NM_001127511.3:c.3553G>C	NP_001120983.2:p.Gly1185Arg
NM_001354895.2:c.3607G>C	NP_001341824.1:p.Gly1203Arg
NM_001354896.2:c.3661G>C	NP_001341825.1:p.Gly1221Arg
NM_001354897.2:c.3637G>C	NP_001341826.1:p.Gly1213Arg
NM_001354898.2:c.3532G>C	NP_001341827.1:p.Gly1178Arg
NM_001354899.2:c.3523G>C	NP_001341828.1:p.Gly1175Arg
NM_001354900.2:c.3484G>C	NP_001341829.1:p.Gly1162Arg
NM_001354901.2:c.3430G>C	NP_001341830.1:p.Gly1144Arg
NM_001354902.2:c.3334G>C	NP_001341831.1:p.Gly1112Arg
NM_001354903.2:c.3304G>C	NP_001341832.1:p.Gly1102Arg
NM_001354904.2:c.3229G>C	NP_001341833.1:p.Gly1077Arg
NM_001354905.2:c.3127G>C	NP_001341834.1:p.Gly1043Arg
NM_001354906.2:c.2758G>C	NP_001341835.1:p.Gly920Arg