Canonical Allele Identifier: CA16027973

Gene: APC

Linked Data

• ClinVar Variation Id: 2683854
• ClinVar RCV Id: RCV003484463
• dbSNP Id: rs2149882824
• MyVariant Identifiers: chr5:g.112174327T>A (hg19) ; chr5:g.112838630T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838630T>A , CM000667.2:g.112838630T>A	GRCh38
NC_000005.9:g.112174327T>A , CM000667.1:g.112174327T>A	GRCh37
NC_000005.8:g.112202226T>A	NCBI36
NG_008481.4:g.151110T>A , LRG_130:g.151110T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2701T>A	ENSP00000484935.2:n.2701T>A
ENST00000504915.3:c.3090T>A	ENSP00000473355.2:p.Asn1030Lys
ENST00000505350.2:c.*3042T>A	ENSP00000481752.1:n.*3042T>A
ENST00000507379.6:c.2982T>A	ENSP00000423224.2:p.Asn994Lys
ENST00000509732.6:c.3036T>A	ENSP00000426541.2:p.Asn1012Lys
ENST00000512211.7:c.3036T>A	ENSP00000423828.3:p.Asn1012Lys
ENST00000257430.9:c.3036T>A MANE Select	ENSP00000257430.4:p.Asn1012Lys
ENST00000257430.8:c.3036T>A	ENSP00000257430.4:p.Asn1012Lys
ENST00000502371.2:c.1389T>A
ENST00000507379.5:c.2982T>A	ENSP00000423224.1:p.Asn994Lys
ENST00000508376.6:c.3036T>A	ENSP00000427089.2:p.Asn1012Lys
ENST00000508624.5:c.*2358T>A	ENSP00000424265.1:n.*2358T>A
ENST00000512211.6:c.3036T>A	ENSP00000423828.2:p.Asn1012Lys
ENST00000520401.1:c.230+9658T>A
NM_000038.5:c.3036T>A	NP_000029.2:p.Asn1012Lys
NM_001127510.2:c.3036T>A	NP_001120982.1:p.Asn1012Lys
NM_001127511.2:c.2982T>A	NP_001120983.2:p.Asn994Lys
NM_001354895.1:c.3036T>A	NP_001341824.1:p.Asn1012Lys
NM_001354896.1:c.3090T>A	NP_001341825.1:p.Asn1030Lys
NM_001354897.1:c.3066T>A	NP_001341826.1:p.Asn1022Lys
NM_001354898.1:c.2961T>A	NP_001341827.1:p.Asn987Lys
NM_001354899.1:c.2952T>A	NP_001341828.1:p.Asn984Lys
NM_001354900.1:c.2913T>A	NP_001341829.1:p.Asn971Lys
NM_001354901.1:c.2859T>A	NP_001341830.1:p.Asn953Lys
NM_001354902.1:c.2763T>A	NP_001341831.1:p.Asn921Lys
NM_001354903.1:c.2733T>A	NP_001341832.1:p.Asn911Lys
NM_001354904.1:c.2658T>A	NP_001341833.1:p.Asn886Lys
NM_001354905.1:c.2556T>A	NP_001341834.1:p.Asn852Lys
NM_001354906.1:c.2187T>A	NP_001341835.1:p.Asn729Lys
NM_000038.6:c.3036T>A MANE Select	NP_000029.2:p.Asn1012Lys
NM_001127510.3:c.3036T>A	NP_001120982.1:p.Asn1012Lys
NM_001127511.3:c.2982T>A	NP_001120983.2:p.Asn994Lys
NM_001354895.2:c.3036T>A	NP_001341824.1:p.Asn1012Lys
NM_001354896.2:c.3090T>A	NP_001341825.1:p.Asn1030Lys
NM_001354897.2:c.3066T>A	NP_001341826.1:p.Asn1022Lys
NM_001354898.2:c.2961T>A	NP_001341827.1:p.Asn987Lys
NM_001354899.2:c.2952T>A	NP_001341828.1:p.Asn984Lys
NM_001354900.2:c.2913T>A	NP_001341829.1:p.Asn971Lys
NM_001354901.2:c.2859T>A	NP_001341830.1:p.Asn953Lys
NM_001354902.2:c.2763T>A	NP_001341831.1:p.Asn921Lys
NM_001354903.2:c.2733T>A	NP_001341832.1:p.Asn911Lys
NM_001354904.2:c.2658T>A	NP_001341833.1:p.Asn886Lys
NM_001354905.2:c.2556T>A	NP_001341834.1:p.Asn852Lys
NM_001354906.2:c.2187T>A	NP_001341835.1:p.Asn729Lys