Canonical Allele Identifier: CA10143195

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573275T>C , CM000684.2:g.23573275T>C	GRCh38
NC_000022.10:g.23915462T>C , CM000684.1:g.23915462T>C	GRCh37
NC_000022.9:g.22245462T>C	NCBI36
NG_009791.1:g.12034A>G , LRG_69:g.12034A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.633A>G MANE Select	NP_064455.1:p.Glu211=
ENST00000330377.3:c.633A>G MANE Select	ENSP00000329312.2:p.Glu211=
NM_001369906.1:c.636A>G	NP_001356835.1:p.Glu212=
NM_020070.3:c.633A>G	NP_064455.1:p.Glu211=
NM_152855.2:c.*262A>G	NP_690594.1:n.*262A>G
NM_152855.3:c.*262A>G	NP_690594.1:n.*262A>G
ENST00000249053.3:c.*262A>G	ENSP00000249053.3:n.*262A>G
ENST00000330377.2:c.633A>G	ENSP00000329312.2:p.Glu211=
XM_011530169.1:c.636A>G	XP_011528471.1:p.Glu212=
XM_011530169.2:c.636A>G	XP_011528471.1:p.Glu212=