Canonical Allele Identifier: CA410898791

Gene: IGLL1

Linked Data

• dbSNP Id: rs1422883380
• gnomAD v2: 22-23915677-A-G
• gnomAD v4: 22-23573490-A-G
• MyVariant Identifiers: chr22:g.23915677A>G (hg19) ; chr22:g.23573490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573490A>G , CM000684.2:g.23573490A>G	GRCh38
NC_000022.10:g.23915677A>G , CM000684.1:g.23915677A>G	GRCh37
NC_000022.9:g.22245677A>G	NCBI36
NG_009791.1:g.11819T>C , LRG_69:g.11819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.418T>C MANE Select	ENSP00000329312.2:p.Phe140Leu
ENST00000249053.3:c.*47T>C	ENSP00000249053.3:n.*47T>C
ENST00000330377.2:c.418T>C	ENSP00000329312.2:p.Phe140Leu
ENST00000438703.1:c.421T>C	ENSP00000403391.1:p.Phe141Leu
NM_020070.3:c.418T>C	NP_064455.1:p.Phe140Leu
NM_152855.2:c.*47T>C	NP_690594.1:n.*47T>C
XM_011530169.1:c.421T>C	XP_011528471.1:p.Phe141Leu
XM_011530169.2:c.421T>C	XP_011528471.1:p.Phe141Leu
NM_020070.4:c.418T>C MANE Select	NP_064455.1:p.Phe140Leu
NM_001369906.1:c.421T>C	NP_001356835.1:p.Phe141Leu
NM_152855.3:c.*47T>C	NP_690594.1:n.*47T>C