Canonical Allele Identifier: CA1024476121
Gene: IGLL1 HGNC NCBI

Linked Data

dbSNP Id: rs1924861031
gnomAD v3: 22-23573239-C-T
gnomAD v4: 22-23573239-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573239C>T , CM000684.2:g.23573239C>T GRCh38
NC_000022.10:g.23915426C>T , CM000684.1:g.23915426C>T GRCh37
NC_000022.9:g.22245426C>T NCBI36
NG_009791.1:g.12070G>A , LRG_69:g.12070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*27G>A MANE Select ENSP00000329312.2:n.*27G>A
ENST00000249053.3:c.*298G>A ENSP00000249053.3:n.*298G>A
ENST00000330377.2:c.*27G>A ENSP00000329312.2:n.*27G>A
NM_020070.3:c.*27G>A NP_064455.1:n.*27G>A
NM_152855.2:c.*298G>A NP_690594.1:n.*298G>A
XM_011530169.1:c.*27G>A XP_011528471.1:n.*27G>A
XM_011530169.2:c.*27G>A XP_011528471.1:n.*27G>A
NM_020070.4:c.*27G>A MANE Select NP_064455.1:n.*27G>A
NM_001369906.1:c.*27G>A NP_001356835.1:n.*27G>A
NM_152855.3:c.*298G>A NP_690594.1:n.*298G>A
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