Canonical Allele Identifier: CA10143256

Gene: IGLL1

Linked Data

• ClinVar Variation Id: 439820
• ClinVar RCV Id: RCV000559039 ; RCV001613331
• dbSNP Id: rs111903752
• ExAC: 22:23915610 A / T
• gnomAD v2: 22-23915610-A-T
• gnomAD v3: 22-23573423-A-T
• gnomAD v4: 22-23573423-A-T
• MyVariant Identifiers: chr22:g.23915610A>T (hg19) ; chr22:g.23573423A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573423A>T , CM000684.2:g.23573423A>T	GRCh38
NC_000022.10:g.23915610A>T , CM000684.1:g.23915610A>T	GRCh37
NC_000022.9:g.22245610A>T	NCBI36
NG_009791.1:g.11886T>A , LRG_69:g.11886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.485T>A MANE Select	ENSP00000329312.2:p.Met162Lys
ENST00000249053.3:c.*114T>A	ENSP00000249053.3:n.*114T>A
ENST00000330377.2:c.485T>A	ENSP00000329312.2:p.Met162Lys
ENST00000438703.1:c.488T>A	ENSP00000403391.1:p.Met163Lys
NM_020070.3:c.485T>A	NP_064455.1:p.Met162Lys
NM_152855.2:c.*114T>A	NP_690594.1:n.*114T>A
XM_011530169.1:c.488T>A	XP_011528471.1:p.Met163Lys
XM_011530169.2:c.488T>A	XP_011528471.1:p.Met163Lys
NM_020070.4:c.485T>A MANE Select	NP_064455.1:p.Met162Lys
NM_001369906.1:c.488T>A	NP_001356835.1:p.Met163Lys
NM_152855.3:c.*114T>A	NP_690594.1:n.*114T>A