Canonical Allele Identifier: CA10143275
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573471G>A , CM000684.2:g.23573471G>A GRCh38
NC_000022.10:g.23915658G>A , CM000684.1:g.23915658G>A GRCh37
NC_000022.9:g.22245658G>A NCBI36
NG_009791.1:g.11838C>T , LRG_69:g.11838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.437C>T MANE Select ENSP00000329312.2:p.Thr146Met
ENST00000249053.3:c.*66C>T ENSP00000249053.3:n.*66C>T
ENST00000330377.2:c.437C>T ENSP00000329312.2:p.Thr146Met
ENST00000438703.1:c.440C>T ENSP00000403391.1:p.Thr147Met
NM_020070.3:c.437C>T NP_064455.1:p.Thr146Met
NM_152855.2:c.*66C>T NP_690594.1:n.*66C>T
XM_011530169.1:c.440C>T XP_011528471.1:p.Thr147Met
XM_011530169.2:c.440C>T XP_011528471.1:p.Thr147Met
NM_020070.4:c.437C>T MANE Select NP_064455.1:p.Thr146Met
NM_001369906.1:c.440C>T NP_001356835.1:p.Thr147Met
NM_152855.3:c.*66C>T NP_690594.1:n.*66C>T