Canonical Allele Identifier: CA2397855742
Gene: IGLL1 HGNC NCBI

Linked Data

dbSNP Id: rs1924851802
gnomAD v4: 22-23573141-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573141A>C , CM000684.2:g.23573141A>C GRCh38
NC_000022.10:g.23915328A>C , CM000684.1:g.23915328A>C GRCh37
NC_000022.9:g.22245328A>C NCBI36
NG_009791.1:g.12168T>G , LRG_69:g.12168T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*125T>G MANE Select ENSP00000329312.2:n.*125T>G
ENST00000249053.3:c.*396T>G ENSP00000249053.3:n.*396T>G
ENST00000330377.2:c.*125T>G ENSP00000329312.2:n.*125T>G
NM_020070.3:c.*125T>G NP_064455.1:n.*125T>G
NM_152855.2:c.*396T>G NP_690594.1:n.*396T>G
XM_011530169.1:c.*125T>G XP_011528471.1:n.*125T>G
XM_011530169.2:c.*125T>G XP_011528471.1:n.*125T>G
NM_020070.4:c.*125T>G MANE Select NP_064455.1:n.*125T>G
NM_001369906.1:c.*125T>G NP_001356835.1:n.*125T>G
NM_152855.3:c.*396T>G NP_690594.1:n.*396T>G
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