Canonical Allele Identifier: CA410898325

Gene: IGLL1

Linked Data

• gnomAD v4: 22-23573266-C-G
• MyVariant Identifiers: chr22:g.23915453C>G (hg19) ; chr22:g.23573266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573266C>G , CM000684.2:g.23573266C>G	GRCh38
NC_000022.10:g.23915453C>G , CM000684.1:g.23915453C>G	GRCh37
NC_000022.9:g.22245453C>G	NCBI36
NG_009791.1:g.12043G>C , LRG_69:g.12043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.642G>C MANE Select	ENSP00000329312.2:p.Ter214Tyr
ENST00000249053.3:c.*271G>C	ENSP00000249053.3:n.*271G>C
ENST00000330377.2:c.642G>C	ENSP00000329312.2:p.Ter214Tyr
NM_020070.3:c.642G>C	NP_064455.1:p.Ter214Tyr
NM_152855.2:c.*271G>C	NP_690594.1:n.*271G>C
XM_011530169.1:c.645G>C	XP_011528471.1:p.Ter215Tyr
XM_011530169.2:c.645G>C	XP_011528471.1:p.Ter215Tyr
NM_020070.4:c.642G>C MANE Select	NP_064455.1:p.Ter214Tyr
NM_001369906.1:c.645G>C	NP_001356835.1:p.Ter215Tyr
NM_152855.3:c.*271G>C	NP_690594.1:n.*271G>C