Canonical Allele Identifier: CA10143182

Gene: IGLL1

Linked Data

• dbSNP Id: rs749575461
• ExAC: 22:23915437 G / A
• gnomAD v2: 22-23915437-G-A
• gnomAD v4: 22-23573250-G-A
• MyVariant Identifiers: chr22:g.23915437G>A (hg19) ; chr22:g.23573250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573250G>A , CM000684.2:g.23573250G>A	GRCh38
NC_000022.10:g.23915437G>A , CM000684.1:g.23915437G>A	GRCh37
NC_000022.9:g.22245437G>A	NCBI36
NG_009791.1:g.12059C>T , LRG_69:g.12059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.*16C>T MANE Select	ENSP00000329312.2:n.*16C>T
ENST00000249053.3:c.*287C>T	ENSP00000249053.3:n.*287C>T
ENST00000330377.2:c.*16C>T	ENSP00000329312.2:n.*16C>T
NM_020070.3:c.*16C>T	NP_064455.1:n.*16C>T
NM_152855.2:c.*287C>T	NP_690594.1:n.*287C>T
XM_011530169.1:c.*16C>T	XP_011528471.1:n.*16C>T
XM_011530169.2:c.*16C>T	XP_011528471.1:n.*16C>T
NM_020070.4:c.*16C>T MANE Select	NP_064455.1:n.*16C>T
NM_001369906.1:c.*16C>T	NP_001356835.1:n.*16C>T
NM_152855.3:c.*287C>T	NP_690594.1:n.*287C>T