Canonical Allele Identifier: CA2585795925

Gene: ERCC1 POLR1G

Linked Data

• gnomAD v4: 19-45407405-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407405G>T , CM000681.2:g.45407405G>T	GRCh38
NC_000019.9:g.45910663G>T , CM000681.1:g.45910663G>T	GRCh37
NC_000019.8:g.50602503G>T	NCBI36
NG_015839.2:g.76424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710953.1:c.*2503C>A (ERCC1)	ENSP00000518553.1:n.*2503C>A
ENST00000300853.8:c.*2270C>A (ERCC1) MANE Select	ENSP00000300853.3:n.*2270C>A
ENST00000309424.8:c.164+170G>T (POLR1G) MANE Select	ENSP00000310966.3:n.164+170G>T
ENST00000300853.7:c.*2270C>A (ERCC1)	ENSP00000300853.2:n.*2270C>A
ENST00000309424.7:c.164+170G>T (POLR1G)	ENSP00000310966.3:n.164+170G>T
ENST00000423698.6:c.*2270C>A (ERCC1)	ENSP00000394875.2:n.*2270C>A
ENST00000589804.1:c.170+170G>T (POLR1G)	ENSP00000465099.1:n.170+170G>T
ENST00000590794.1:c.20+687G>T (POLR1G)
ENST00000592852.1:c.-371+170G>T (POLR1G)	ENSP00000467771.1:n.-371+170G>T
NM_001166049.1:c.*2270C>A (ERCC1)	NP_001159521.1:n.*2270C>A
NM_001297590.1:c.170+170G>T (POLR1G)	NP_001284519.1:n.170+170G>T
NM_001983.3:c.*2270C>A (ERCC1)	NP_001974.1:n.*2270C>A
NM_012099.1:c.164+170G>T (POLR1G)	NP_036231.1:n.164+170G>T
XM_017026460.2:c.*2270C>A (ERCC1)	XP_016881949.1:n.*2270C>A
XM_017026461.1:c.*2270C>A (ERCC1)	XP_016881950.1:n.*2270C>A
XM_017026462.1:c.*2270C>A (ERCC1)	XP_016881951.1:n.*2270C>A
XM_017026463.1:c.*2270C>A (ERCC1)	XP_016881952.1:n.*2270C>A
XM_017026464.1:c.*2270C>A (ERCC1)	XP_016881953.1:n.*2270C>A
XM_017026465.1:c.*2270C>A (ERCC1)	XP_016881954.1:n.*2270C>A
XM_017026466.1:c.*2270C>A (ERCC1)	XP_016881955.1:n.*2270C>A
XR_001753631.1:n.3750C>A (ERCC1)
XR_001753632.1:n.4220C>A (ERCC1)
NM_001166049.2:c.*2270C>A (ERCC1)	NP_001159521.1:n.*2270C>A
NM_001297590.2:c.170+170G>T (POLR1G)	NP_001284519.1:n.170+170G>T
NM_001369412.1:c.*2270C>A (ERCC1)	NP_001356341.1:n.*2270C>A
NM_001369413.1:c.*2270C>A (ERCC1)	NP_001356342.1:n.*2270C>A
NM_001369414.1:c.*2270C>A (ERCC1)	NP_001356343.1:n.*2270C>A
NM_001369415.1:c.*2270C>A (ERCC1)	NP_001356344.1:n.*2270C>A
NM_001369416.1:c.*2270C>A (ERCC1)	NP_001356345.1:n.*2270C>A
NM_001369417.1:c.*2270C>A (ERCC1)	NP_001356346.1:n.*2270C>A
NM_001369418.1:c.*2270C>A (ERCC1)	NP_001356347.1:n.*2270C>A
NM_001369419.1:c.*2270C>A (ERCC1)	NP_001356348.1:n.*2270C>A
NM_001983.4:c.*2270C>A (ERCC1) MANE Select	NP_001974.1:n.*2270C>A
NM_012099.2:c.164+170G>T (POLR1G)	NP_036231.1:n.164+170G>T
NM_001297590.3:c.170+170G>T (POLR1G)	NP_001284519.1:n.170+170G>T
NM_012099.3:c.164+170G>T (POLR1G) MANE Select	NP_036231.1:n.164+170G>T