Canonical Allele Identifier: CA410898350

Gene: IGLL1

Linked Data

• gnomAD v4: 22-23573277-C-T
• COSMIC: COSM5532603
• MyVariant Identifiers: chr22:g.23915464C>T (hg19) ; chr22:g.23573277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573277C>T , CM000684.2:g.23573277C>T	GRCh38
NC_000022.10:g.23915464C>T , CM000684.1:g.23915464C>T	GRCh37
NC_000022.9:g.22245464C>T	NCBI36
NG_009791.1:g.12032G>A , LRG_69:g.12032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.631G>A MANE Select	ENSP00000329312.2:p.Glu211Lys
ENST00000249053.3:c.*260G>A	ENSP00000249053.3:n.*260G>A
ENST00000330377.2:c.631G>A	ENSP00000329312.2:p.Glu211Lys
NM_020070.3:c.631G>A	NP_064455.1:p.Glu211Lys
NM_152855.2:c.*260G>A	NP_690594.1:n.*260G>A
XM_011530169.1:c.634G>A	XP_011528471.1:p.Glu212Lys
XM_011530169.2:c.634G>A	XP_011528471.1:p.Glu212Lys
NM_020070.4:c.631G>A MANE Select	NP_064455.1:p.Glu211Lys
NM_001369906.1:c.634G>A	NP_001356835.1:p.Glu212Lys
NM_152855.3:c.*260G>A	NP_690594.1:n.*260G>A