Canonical Allele Identifier: CA410898331

Gene: IGLL1

Linked Data

• gnomAD v4: 22-23573268-A-G
• MyVariant Identifiers: chr22:g.23915455A>G (hg19) ; chr22:g.23573268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573268A>G , CM000684.2:g.23573268A>G	GRCh38
NC_000022.10:g.23915455A>G , CM000684.1:g.23915455A>G	GRCh37
NC_000022.9:g.22245455A>G	NCBI36
NG_009791.1:g.12041T>C , LRG_69:g.12041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.640T>C MANE Select	ENSP00000329312.2:p.Ter214Gln
ENST00000249053.3:c.*269T>C	ENSP00000249053.3:n.*269T>C
ENST00000330377.2:c.640T>C	ENSP00000329312.2:p.Ter214Gln
NM_020070.3:c.640T>C	NP_064455.1:p.Ter214Gln
NM_152855.2:c.*269T>C	NP_690594.1:n.*269T>C
XM_011530169.1:c.643T>C	XP_011528471.1:p.Ter215Gln
XM_011530169.2:c.643T>C	XP_011528471.1:p.Ter215Gln
NM_020070.4:c.640T>C MANE Select	NP_064455.1:p.Ter214Gln
NM_001369906.1:c.643T>C	NP_001356835.1:p.Ter215Gln
NM_152855.3:c.*269T>C	NP_690594.1:n.*269T>C