Canonical Allele Identifier: CA10143196

Gene: IGLL1

Linked Data

• dbSNP Id: rs142727082
• ExAC: 22:23915464 C / G
• gnomAD v2: 22-23915464-C-G
• gnomAD v3: 22-23573277-C-G
• gnomAD v4: 22-23573277-C-G
• MyVariant Identifiers: chr22:g.23915464C>G (hg19) ; chr22:g.23573277C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573277C>G , CM000684.2:g.23573277C>G	GRCh38
NC_000022.10:g.23915464C>G , CM000684.1:g.23915464C>G	GRCh37
NC_000022.9:g.22245464C>G	NCBI36
NG_009791.1:g.12032G>C , LRG_69:g.12032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.631G>C MANE Select	ENSP00000329312.2:p.Glu211Gln
ENST00000249053.3:c.*260G>C	ENSP00000249053.3:n.*260G>C
ENST00000330377.2:c.631G>C	ENSP00000329312.2:p.Glu211Gln
NM_020070.3:c.631G>C	NP_064455.1:p.Glu211Gln
NM_152855.2:c.*260G>C	NP_690594.1:n.*260G>C
XM_011530169.1:c.634G>C	XP_011528471.1:p.Glu212Gln
XM_011530169.2:c.634G>C	XP_011528471.1:p.Glu212Gln
NM_020070.4:c.631G>C MANE Select	NP_064455.1:p.Glu211Gln
NM_001369906.1:c.634G>C	NP_001356835.1:p.Glu212Gln
NM_152855.3:c.*260G>C	NP_690594.1:n.*260G>C