Canonical Allele Identifier: CA513685748
Gene: IGLL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.23915465T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573278T>C , CM000684.2:g.23573278T>C GRCh38
NC_000022.10:g.23915465T>C , CM000684.1:g.23915465T>C GRCh37
NC_000022.9:g.22245465T>C NCBI36
NG_009791.1:g.12031A>G , LRG_69:g.12031A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.630A>G MANE Select ENSP00000329312.2:p.Ala210=
ENST00000249053.3:c.*259A>G ENSP00000249053.3:n.*259A>G
ENST00000330377.2:c.630A>G ENSP00000329312.2:p.Ala210=
NM_020070.3:c.630A>G NP_064455.1:p.Ala210=
NM_152855.2:c.*259A>G NP_690594.1:n.*259A>G
XM_011530169.1:c.633A>G XP_011528471.1:p.Ala211=
XM_011530169.2:c.633A>G XP_011528471.1:p.Ala211=
NM_020070.4:c.630A>G MANE Select NP_064455.1:p.Ala210=
NM_001369906.1:c.633A>G NP_001356835.1:p.Ala211=
NM_152855.3:c.*259A>G NP_690594.1:n.*259A>G