Canonical Allele Identifier: CA10143223

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573324T>C , CM000684.2:g.23573324T>C	GRCh38
NC_000022.10:g.23915511T>C , CM000684.1:g.23915511T>C	GRCh37
NC_000022.9:g.22245511T>C	NCBI36
NG_009791.1:g.11985A>G , LRG_69:g.11985A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.584A>G MANE Select	NP_064455.1:p.Gln195Arg
ENST00000330377.3:c.584A>G MANE Select	ENSP00000329312.2:p.Gln195Arg
NM_001369906.1:c.587A>G	NP_001356835.1:p.Gln196Arg
NM_020070.3:c.584A>G	NP_064455.1:p.Gln195Arg
NM_152855.2:c.*213A>G	NP_690594.1:n.*213A>G
NM_152855.3:c.*213A>G	NP_690594.1:n.*213A>G
ENST00000249053.3:c.*213A>G	ENSP00000249053.3:n.*213A>G
ENST00000330377.2:c.584A>G	ENSP00000329312.2:p.Gln195Arg
XM_011530169.1:c.587A>G	XP_011528471.1:p.Gln196Arg
XM_011530169.2:c.587A>G	XP_011528471.1:p.Gln196Arg