Canonical Allele Identifier: CA638949787

Gene: IGLL1

Linked Data

• dbSNP Id: rs1230488374
• gnomAD v2: 22-23915359-G-C
• gnomAD v3: 22-23573172-G-C
• gnomAD v4: 22-23573172-G-C
• MyVariant Identifiers: chr22:g.23915359G>C (hg19) ; chr22:g.23573172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573172G>C , CM000684.2:g.23573172G>C	GRCh38
NC_000022.10:g.23915359G>C , CM000684.1:g.23915359G>C	GRCh37
NC_000022.9:g.22245359G>C	NCBI36
NG_009791.1:g.12137C>G , LRG_69:g.12137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.*94C>G MANE Select	ENSP00000329312.2:n.*94C>G
ENST00000249053.3:c.*365C>G	ENSP00000249053.3:n.*365C>G
ENST00000330377.2:c.*94C>G	ENSP00000329312.2:n.*94C>G
NM_020070.3:c.*94C>G	NP_064455.1:n.*94C>G
NM_152855.2:c.*365C>G	NP_690594.1:n.*365C>G
XM_011530169.1:c.*94C>G	XP_011528471.1:n.*94C>G
XM_011530169.2:c.*94C>G	XP_011528471.1:n.*94C>G
NM_020070.4:c.*94C>G MANE Select	NP_064455.1:n.*94C>G
NM_001369906.1:c.*94C>G	NP_001356835.1:n.*94C>G
NM_152855.3:c.*365C>G	NP_690594.1:n.*365C>G