Canonical Allele Identifier: CA2818523351
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573216C>T , CM000684.2:g.23573216C>T GRCh38
NC_000022.10:g.23915403C>T , CM000684.1:g.23915403C>T GRCh37
NC_000022.9:g.22245403C>T NCBI36
NG_009791.1:g.12093G>A , LRG_69:g.12093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*50G>A MANE Select ENSP00000329312.2:n.*50G>A
ENST00000249053.3:c.*321G>A ENSP00000249053.3:n.*321G>A
ENST00000330377.2:c.*50G>A ENSP00000329312.2:n.*50G>A
NM_020070.3:c.*50G>A NP_064455.1:n.*50G>A
NM_152855.2:c.*321G>A NP_690594.1:n.*321G>A
XM_011530169.1:c.*50G>A XP_011528471.1:n.*50G>A
XM_011530169.2:c.*50G>A XP_011528471.1:n.*50G>A
NM_020070.4:c.*50G>A MANE Select NP_064455.1:n.*50G>A
NM_001369906.1:c.*50G>A NP_001356835.1:n.*50G>A
NM_152855.3:c.*321G>A NP_690594.1:n.*321G>A