Canonical Allele Identifier: CA513685796
Gene: IGLL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.23915573C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573386C>G , CM000684.2:g.23573386C>G GRCh38
NC_000022.10:g.23915573C>G , CM000684.1:g.23915573C>G GRCh37
NC_000022.9:g.22245573C>G NCBI36
NG_009791.1:g.11923G>C , LRG_69:g.11923G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330377.3:c.522G>C MANE Select ENSP00000329312.2:p.Ala174=
ENST00000249053.3:c.*151G>C ENSP00000249053.3:n.*151G>C
ENST00000330377.2:c.522G>C ENSP00000329312.2:p.Ala174=
ENST00000438703.1:c.525G>C ENSP00000403391.1:p.Ala175=
NM_020070.3:c.522G>C NP_064455.1:p.Ala174=
NM_152855.2:c.*151G>C NP_690594.1:n.*151G>C
XM_011530169.1:c.525G>C XP_011528471.1:p.Ala175=
XM_011530169.2:c.525G>C XP_011528471.1:p.Ala175=
NM_020070.4:c.522G>C MANE Select NP_064455.1:p.Ala174=
NM_001369906.1:c.525G>C NP_001356835.1:p.Ala175=
NM_152855.3:c.*151G>C NP_690594.1:n.*151G>C