Canonical Allele Identifier: CA638949790

Gene: IGLL1

Linked Data

• dbSNP Id: rs879057154
• gnomAD v2: 22-23915424-C-T
• gnomAD v4: 22-23573237-C-T
• MyVariant Identifiers: chr22:g.23915424C>T (hg19) ; chr22:g.23573237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573237C>T , CM000684.2:g.23573237C>T	GRCh38
NC_000022.10:g.23915424C>T , CM000684.1:g.23915424C>T	GRCh37
NC_000022.9:g.22245424C>T	NCBI36
NG_009791.1:g.12072G>A , LRG_69:g.12072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.*29G>A MANE Select	ENSP00000329312.2:n.*29G>A
ENST00000249053.3:c.*300G>A	ENSP00000249053.3:n.*300G>A
ENST00000330377.2:c.*29G>A	ENSP00000329312.2:n.*29G>A
NM_020070.3:c.*29G>A	NP_064455.1:n.*29G>A
NM_152855.2:c.*300G>A	NP_690594.1:n.*300G>A
XM_011530169.1:c.*29G>A	XP_011528471.1:n.*29G>A
XM_011530169.2:c.*29G>A	XP_011528471.1:n.*29G>A
NM_020070.4:c.*29G>A MANE Select	NP_064455.1:n.*29G>A
NM_001369906.1:c.*29G>A	NP_001356835.1:n.*29G>A
NM_152855.3:c.*300G>A	NP_690594.1:n.*300G>A