Canonical Allele Identifier: CA322555699
Gene: IGLL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1262879
ClinVar RCV Id: RCV001670112
dbSNP Id: rs1064417
gnomAD v2: 22-23915340-T-G
gnomAD v3: 22-23573153-T-G
gnomAD v4: 22-23573153-T-G
MyVariant Identifiers: chr22:g.23915340T>G (hg19) chr22:g.23573153T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573153T>G , CM000684.2:g.23573153T>G GRCh38
NC_000022.10:g.23915340T>G , CM000684.1:g.23915340T>G GRCh37
NC_000022.9:g.22245340T>G NCBI36
NG_009791.1:g.12156A>C , LRG_69:g.12156A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*113A>C MANE Select ENSP00000329312.2:n.*113A>C
ENST00000249053.3:c.*384A>C ENSP00000249053.3:n.*384A>C
ENST00000330377.2:c.*113A>C ENSP00000329312.2:n.*113A>C
NM_020070.3:c.*113A>C NP_064455.1:n.*113A>C
NM_152855.2:c.*384A>C NP_690594.1:n.*384A>C
XM_011530169.1:c.*113A>C XP_011528471.1:n.*113A>C
XM_011530169.2:c.*113A>C XP_011528471.1:n.*113A>C
NM_020070.4:c.*113A>C MANE Select NP_064455.1:n.*113A>C
NM_001369906.1:c.*113A>C NP_001356835.1:n.*113A>C
NM_152855.3:c.*384A>C NP_690594.1:n.*384A>C
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