Canonical Allele Identifier: CA410898328

Gene: IGLL1

Linked Data

• gnomAD v4: 22-23573267-T-C
• MyVariant Identifiers: chr22:g.23915454T>C (hg19) ; chr22:g.23573267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573267T>C , CM000684.2:g.23573267T>C	GRCh38
NC_000022.10:g.23915454T>C , CM000684.1:g.23915454T>C	GRCh37
NC_000022.9:g.22245454T>C	NCBI36
NG_009791.1:g.12042A>G , LRG_69:g.12042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.641A>G MANE Select	ENSP00000329312.2:p.Ter214Trp
ENST00000249053.3:c.*270A>G	ENSP00000249053.3:n.*270A>G
ENST00000330377.2:c.641A>G	ENSP00000329312.2:p.Ter214Trp
NM_020070.3:c.641A>G	NP_064455.1:p.Ter214Trp
NM_152855.2:c.*270A>G	NP_690594.1:n.*270A>G
XM_011530169.1:c.644A>G	XP_011528471.1:p.Ter215Trp
XM_011530169.2:c.644A>G	XP_011528471.1:p.Ter215Trp
NM_020070.4:c.641A>G MANE Select	NP_064455.1:p.Ter214Trp
NM_001369906.1:c.644A>G	NP_001356835.1:p.Ter215Trp
NM_152855.3:c.*270A>G	NP_690594.1:n.*270A>G