Canonical Allele Identifier: CA410899534
Community Standard Title: NM_020070.4(IGLL1):c.74C>A (p.Pro25His)
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23580117G>T , CM000684.2:g.23580117G>T GRCh38
NC_000022.10:g.23922304G>T , CM000684.1:g.23922304G>T GRCh37
NC_000022.9:g.22252304G>T NCBI36
NG_009791.1:g.5192C>A , LRG_69:g.5192C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020070.4:c.74C>A MANE Select NP_064455.1:p.Pro25His
ENST00000330377.3:c.74C>A MANE Select ENSP00000329312.2:p.Pro25His
NM_001369906.1:c.74C>A NP_001356835.1:p.Pro25His
NM_020070.3:c.74C>A NP_064455.1:p.Pro25His
NM_152855.2:c.74C>A NP_690594.1:p.Pro25His
NM_152855.3:c.74C>A NP_690594.1:p.Pro25His
ENST00000249053.3:c.74C>A ENSP00000249053.3:p.Pro25His
ENST00000330377.2:c.74C>A ENSP00000329312.2:p.Pro25His
ENST00000438703.1:c.74C>A ENSP00000403391.1:p.Pro25His
XM_011530169.1:c.74C>A XP_011528471.1:p.Pro25His
XM_011530169.2:c.74C>A XP_011528471.1:p.Pro25His