Canonical Allele Identifier: CA2397855744

Gene: IGLL1

Linked Data

• dbSNP Id: rs946183376
• gnomAD v4: 22-23573144-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573144G>T , CM000684.2:g.23573144G>T	GRCh38
NC_000022.10:g.23915331G>T , CM000684.1:g.23915331G>T	GRCh37
NC_000022.9:g.22245331G>T	NCBI36
NG_009791.1:g.12165C>A , LRG_69:g.12165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.*122C>A MANE Select	ENSP00000329312.2:n.*122C>A
ENST00000249053.3:c.*393C>A	ENSP00000249053.3:n.*393C>A
ENST00000330377.2:c.*122C>A	ENSP00000329312.2:n.*122C>A
NM_020070.3:c.*122C>A	NP_064455.1:n.*122C>A
NM_152855.2:c.*393C>A	NP_690594.1:n.*393C>A
XM_011530169.1:c.*122C>A	XP_011528471.1:n.*122C>A
XM_011530169.2:c.*122C>A	XP_011528471.1:n.*122C>A
NM_020070.4:c.*122C>A MANE Select	NP_064455.1:n.*122C>A
NM_001369906.1:c.*122C>A	NP_001356835.1:n.*122C>A
NM_152855.3:c.*393C>A	NP_690594.1:n.*393C>A