Canonical Allele Identifier: CA359827229

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200648G>A (hg19) ; chr5:g.60904821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904821G>A , CM000667.2:g.60904821G>A	GRCh38
NC_000005.9:g.60200648G>A , CM000667.1:g.60200648G>A	GRCh37
NC_000005.8:g.60236405G>A	NCBI36
NG_009289.1:g.45258C>T , LRG_466:g.45258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.452C>T	ENSP00000408344.2:p.Pro151Leu
ENST00000647431.2:c.553C>T	ENSP00000494726.2:n.553C>T
ENST00000647486.2:c.452C>T	ENSP00000494466.2:p.Pro151Leu
ENST00000675042.2:c.278C>T	ENSP00000502082.2:p.Pro93Leu
ENST00000675452.2:c.*417C>T	ENSP00000506954.1:n.*417C>T
ENST00000682217.1:c.452C>T	ENSP00000507570.1:p.Pro151Leu
ENST00000682246.1:n.508C>T
ENST00000682375.1:c.*282C>T	ENSP00000507551.1:n.*282C>T
ENST00000683052.1:c.254C>T	ENSP00000507072.1:p.Pro85Leu
ENST00000683199.1:n.474C>T
ENST00000683216.1:n.717C>T
ENST00000683460.1:c.*282C>T	ENSP00000507820.1:n.*282C>T
ENST00000684394.1:n.507C>T
ENST00000684453.1:n.502C>T
ENST00000684621.1:n.508C>T
ENST00000265038.10:c.452C>T	ENSP00000265038.6:p.Pro151Leu
ENST00000497892.6:c.*250C>T	ENSP00000501805.1:n.*250C>T
ENST00000643034.1:c.*344C>T	ENSP00000496080.1:n.*344C>T
ENST00000643708.1:c.*282C>T	ENSP00000494199.1:n.*282C>T
ENST00000647431.1:c.504C>T
ENST00000647486.1:c.403C>T
ENST00000675042.1:c.278C>T	ENSP00000502082.1:p.Pro93Leu
ENST00000675229.1:c.452C>T	ENSP00000502154.1:p.Pro151Leu
ENST00000675378.1:c.452C>T	ENSP00000502535.1:p.Pro151Leu
ENST00000675452.1:n.701C>T
ENST00000675920.1:n.1060C>T
ENST00000676185.1:c.452C>T MANE Select	ENSP00000501614.1:p.Pro151Leu
ENST00000265038.9:c.452C>T	ENSP00000265038.5:p.Pro151Leu
ENST00000381118.7:c.*496C>T	ENSP00000370510.3:n.*496C>T
ENST00000439176.5:c.278C>T	ENSP00000408344.1:p.Pro93Leu
ENST00000462279.5:n.297C>T
ENST00000484330.5:n.227-2313C>T
ENST00000495985.5:n.225C>T
ENST00000497892.5:n.495C>T
NM_000082.3:c.452C>T , LRG_466t1:c.452C>T	NP_000073.1:p.Pro151Leu
NM_001007233.2:c.278C>T	NP_001007234.1:p.Pro93Leu
NM_001007234.2:c.452C>T	NP_001007235.1:p.Pro151Leu
NM_001290285.1:c.23-1105C>T	NP_001277214.1:n.23-1105C>T
NM_001007234.3:c.452C>T	NP_001007235.1:p.Pro151Leu
NM_000082.4:c.452C>T MANE Select	NP_000073.1:p.Pro151Leu
NM_001007233.3:c.278C>T	NP_001007234.1:p.Pro93Leu
NM_001290285.2:c.23-1105C>T	NP_001277214.1:n.23-1105C>T