Canonical Allele Identifier: CA513685929

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573509C>T , CM000684.2:g.23573509C>T	GRCh38
NC_000022.10:g.23915696C>T , CM000684.1:g.23915696C>T	GRCh37
NC_000022.9:g.22245696C>T	NCBI36
NG_009791.1:g.11800G>A , LRG_69:g.11800G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.399G>A MANE Select	NP_064455.1:p.Leu133=
ENST00000330377.3:c.399G>A MANE Select	ENSP00000329312.2:p.Leu133=
NM_001369906.1:c.402G>A	NP_001356835.1:p.Leu134=
NM_020070.3:c.399G>A	NP_064455.1:p.Leu133=
NM_152855.2:c.*28G>A	NP_690594.1:n.*28G>A
NM_152855.3:c.*28G>A	NP_690594.1:n.*28G>A
ENST00000249053.3:c.*28G>A	ENSP00000249053.3:n.*28G>A
ENST00000330377.2:c.399G>A	ENSP00000329312.2:p.Leu133=
ENST00000438703.1:c.402G>A	ENSP00000403391.1:p.Leu134=
XM_011530169.1:c.402G>A	XP_011528471.1:p.Leu134=
XM_011530169.2:c.402G>A	XP_011528471.1:p.Leu134=