Canonical Allele Identifier: CA1624560634
Community Standard Title: NM_203290.4(POLR1C):c.979A= (p.Lys327=)
Gene: POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43521238A= , CM000668.2:g.43521238A= GRCh38
NC_000006.11:g.43488976A= , CM000668.1:g.43488976A= GRCh37
NC_000006.10:g.43596954A= NCBI36
NG_028283.1:g.9200A=
NG_028283.3:g.16537A=
NG_051658.1:g.59838T=

Transcript Alleles

HGVS Amino-acid Change
NM_203290.4:c.979A= MANE Select NP_976035.1:p.Lys327=
ENST00000642195.1:c.979A= MANE Select ENSP00000496044.1:p.Lys327=
NM_001318876.1:c.922+190A= NP_001305805.1:n.922+190A=
NM_001318876.2:c.922+190A= NP_001305805.1:n.922+190A=
NM_001363658.1:c.922+190A= NP_001350587.1:n.922+190A=
NM_001363658.2:c.922+190A= NP_001350587.1:n.922+190A=
NM_203290.2:c.979A= NP_976035.1:p.Lys327=
NM_203290.3:c.979A= NP_976035.1:p.Lys327=
ENST00000304004.7:c.922+190A= ENSP00000307212.3:n.922+190A=
ENST00000372344.6:c.829A= ENSP00000361419.2:p.Lys277=
ENST00000372389.7:c.979A= ENSP00000361465.3:p.Lys327=
ENST00000455605.2:n.1626A=
ENST00000481352.6:n.1484A=
ENST00000607635.2:c.922+190A= ENSP00000496683.1:n.922+190A=
ENST00000643341.1:c.922+190A= ENSP00000496018.1:n.922+190A=
ENST00000643799.1:c.829A= ENSP00000494529.1:p.Lys277=
ENST00000645141.1:c.*590A= ENSP00000496755.1:n.*590A=
ENST00000646188.1:c.814A= ENSP00000496001.1:p.Lys272=
ENST00000646433.1:c.922+190A= ENSP00000494368.1:n.922+190A=
ENST00000646700.1:c.922+190A= ENSP00000495521.1:n.922+190A=
XM_005249491.1:c.922+190A= XP_005249548.1:n.922+190A=
XM_011515000.1:c.922+190A= XP_011513302.1:n.922+190A=