Canonical Allele Identifier: CA513685873
Gene: IGLL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.23915663G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573476G>A , CM000684.2:g.23573476G>A GRCh38
NC_000022.10:g.23915663G>A , CM000684.1:g.23915663G>A GRCh37
NC_000022.9:g.22245663G>A NCBI36
NG_009791.1:g.11833C>T , LRG_69:g.11833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.432C>T MANE Select ENSP00000329312.2:p.Ile144=
ENST00000249053.3:c.*61C>T ENSP00000249053.3:n.*61C>T
ENST00000330377.2:c.432C>T ENSP00000329312.2:p.Ile144=
ENST00000438703.1:c.435C>T ENSP00000403391.1:p.Ile145=
NM_020070.3:c.432C>T NP_064455.1:p.Ile144=
NM_152855.2:c.*61C>T NP_690594.1:n.*61C>T
XM_011530169.1:c.435C>T XP_011528471.1:p.Ile145=
XM_011530169.2:c.435C>T XP_011528471.1:p.Ile145=
NM_020070.4:c.432C>T MANE Select NP_064455.1:p.Ile144=
NM_001369906.1:c.435C>T NP_001356835.1:p.Ile145=
NM_152855.3:c.*61C>T NP_690594.1:n.*61C>T