Canonical Allele Identifier: CA364284507

Gene: POLR1C

Linked Data

• dbSNP Id: rs1337642287
• gnomAD v2: 6-43488410-C-A
• gnomAD v4: 6-43520672-C-A
• MyVariant Identifiers: chr6:g.43488410C>A (hg19) ; chr6:g.43520672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520672C>A , CM000668.2:g.43520672C>A	GRCh38
NC_000006.11:g.43488410C>A , CM000668.1:g.43488410C>A	GRCh37
NC_000006.10:g.43596388C>A	NCBI36
NG_028283.1:g.8634C>A
NG_028283.3:g.15971C>A
NG_051658.1:g.60404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.703C>A	ENSP00000496683.1:p.Leu235Ile
ENST00000642195.1:c.703C>A MANE Select	ENSP00000496044.1:p.Leu235Ile
ENST00000643341.1:c.703C>A	ENSP00000496018.1:p.Leu235Ile
ENST00000643799.1:c.655+245C>A	ENSP00000494529.1:n.655+245C>A
ENST00000645141.1:c.*314C>A	ENSP00000496755.1:n.*314C>A
ENST00000646188.1:c.538C>A	ENSP00000496001.1:p.Leu180Ile
ENST00000646433.1:c.703C>A	ENSP00000494368.1:p.Leu235Ile
ENST00000646700.1:c.703C>A	ENSP00000495521.1:p.Leu235Ile
ENST00000304004.7:c.703C>A	ENSP00000307212.3:p.Leu235Ile
ENST00000372344.6:c.655+245C>A	ENSP00000361419.2:n.655+245C>A
ENST00000372389.7:c.703C>A	ENSP00000361465.3:p.Leu235Ile
ENST00000455605.2:n.1193C>A
ENST00000481352.6:n.1075C>A
ENST00000488601.6:n.942C>A
NM_203290.2:c.703C>A	NP_976035.1:p.Leu235Ile
XM_005249491.1:c.703C>A	XP_005249548.1:p.Leu235Ile
XM_011515000.1:c.703C>A	XP_011513302.1:p.Leu235Ile
NM_001318876.1:c.703C>A	NP_001305805.1:p.Leu235Ile
NM_001363658.1:c.703C>A	NP_001350587.1:p.Leu235Ile
NM_203290.3:c.703C>A	NP_976035.1:p.Leu235Ile
NM_203290.4:c.703C>A MANE Select	NP_976035.1:p.Leu235Ile
NM_001363658.2:c.703C>A	NP_001350587.1:p.Leu235Ile
NM_001318876.2:c.703C>A	NP_001305805.1:p.Leu235Ile