Canonical Allele Identifier: CA10143359
Community Standard Title: NM_020070.4(IGLL1):c.258G>A (p.Gly86=)
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23575031C>T , CM000684.2:g.23575031C>T GRCh38
NC_000022.10:g.23917218C>T , CM000684.1:g.23917218C>T GRCh37
NC_000022.9:g.22247218C>T NCBI36
NG_009791.1:g.10278G>A , LRG_69:g.10278G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020070.4:c.258G>A MANE Select NP_064455.1:p.Gly86=
ENST00000330377.3:c.258G>A MANE Select ENSP00000329312.2:p.Gly86=
NM_001369906.1:c.261G>A NP_001356835.1:p.Gly87=
NM_020070.3:c.258G>A NP_064455.1:p.Gly86=
NM_152855.2:c.207-1446G>A NP_690594.1:n.207-1446G>A
NM_152855.3:c.207-1446G>A NP_690594.1:n.207-1446G>A
ENST00000249053.3:c.207-1446G>A ENSP00000249053.3:n.207-1446G>A
ENST00000330377.2:c.258G>A ENSP00000329312.2:p.Gly86=
ENST00000438703.1:c.261G>A ENSP00000403391.1:p.Gly87=
XM_011530169.1:c.261G>A XP_011528471.1:p.Gly87=
XM_011530169.2:c.261G>A XP_011528471.1:p.Gly87=