Canonical Allele Identifier: CA882724349

Gene: ERCC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45423658C>T , CM000681.2:g.45423658C>T	GRCh38
NC_000019.9:g.45926916C>T , CM000681.1:g.45926916C>T	GRCh37
NC_000019.8:g.50618756C>T	NCBI36
NG_015839.2:g.60171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710953.1:c.-8+123G>A	ENSP00000518553.1:n.-8+123G>A
ENST00000300853.8:c.-8+123G>A MANE Select	ENSP00000300853.3:n.-8+123G>A
ENST00000300853.7:c.-8+123G>A	ENSP00000300853.2:n.-8+123G>A
ENST00000340192.11:c.-8+123G>A	ENSP00000345203.6:n.-8+123G>A
ENST00000423698.6:c.-7-277G>A	ENSP00000394875.2:n.-7-277G>A
ENST00000588300.1:n.116+165G>A
ENST00000589165.5:c.-8+165G>A	ENSP00000468035.1:n.-8+165G>A
ENST00000589214.1:c.-7-277G>A	ENSP00000465524.1:n.-7-277G>A
ENST00000592083.5:c.-7-277G>A	ENSP00000467183.1:n.-7-277G>A
ENST00000592905.5:n.50+165G>A
NM_001166049.1:c.-8+123G>A	NP_001159521.1:n.-8+123G>A
NM_001983.3:c.-8+123G>A	NP_001974.1:n.-8+123G>A
XM_005258634.1:c.-8+123G>A	XP_005258691.1:n.-8+123G>A
XM_005258635.2:c.-8+165G>A	XP_005258692.1:n.-8+165G>A
XM_005258636.3:c.-7-277G>A	XP_005258693.1:n.-7-277G>A
XM_005258637.1:c.-8+123G>A	XP_005258694.1:n.-8+123G>A
XM_011526610.1:c.-7-277G>A	XP_011524912.1:n.-7-277G>A
XM_005258636.4:c.-7-277G>A	XP_005258693.1:n.-7-277G>A
XM_011526610.2:c.-7-277G>A	XP_011524912.1:n.-7-277G>A
XM_017026459.1:c.-7-277G>A	XP_016881948.1:n.-7-277G>A
XM_017026460.2:c.-8+165G>A	XP_016881949.1:n.-8+165G>A
XM_017026461.1:c.-7-277G>A	XP_016881950.1:n.-7-277G>A
XM_017026462.1:c.-7-277G>A	XP_016881951.1:n.-7-277G>A
XM_017026463.1:c.-7-277G>A	XP_016881952.1:n.-7-277G>A
XM_017026464.1:c.-7-277G>A	XP_016881953.1:n.-7-277G>A
XM_017026465.1:c.-8+165G>A	XP_016881954.1:n.-8+165G>A
XM_017026466.1:c.-7-277G>A	XP_016881955.1:n.-7-277G>A
XR_001753631.1:n.70+123G>A
XR_001753632.1:n.540+165G>A
NM_001166049.2:c.-8+123G>A	NP_001159521.1:n.-8+123G>A
NM_001369408.1:c.-8+165G>A	NP_001356337.1:n.-8+165G>A
NM_001369409.1:c.-8+123G>A	NP_001356338.1:n.-8+123G>A
NM_001369410.1:c.-8+123G>A	NP_001356339.1:n.-8+123G>A
NM_001369412.1:c.-7-277G>A	NP_001356341.1:n.-7-277G>A
NM_001369413.1:c.-7-277G>A	NP_001356342.1:n.-7-277G>A
NM_001369414.1:c.-7-277G>A	NP_001356343.1:n.-7-277G>A
NM_001369415.1:c.-8+165G>A	NP_001356344.1:n.-8+165G>A
NM_001369417.1:c.-7-277G>A	NP_001356346.1:n.-7-277G>A
NM_001369418.1:c.-8+165G>A	NP_001356347.1:n.-8+165G>A
NM_001983.4:c.-8+123G>A MANE Select	NP_001974.1:n.-8+123G>A