Canonical Allele Identifier: CA10143241

Gene: IGLL1

Linked Data

• ClinVar Variation Id: 580208
• ClinVar RCV Id: RCV000703680
• dbSNP Id: rs1064419
• ExAC: 22:23915574 G / A
• gnomAD v2: 22-23915574-G-A
• gnomAD v3: 22-23573387-G-A
• gnomAD v4: 22-23573387-G-A
• MyVariant Identifiers: chr22:g.23915574G>A (hg19) ; chr22:g.23573387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573387G>A , CM000684.2:g.23573387G>A	GRCh38
NC_000022.10:g.23915574G>A , CM000684.1:g.23915574G>A	GRCh37
NC_000022.9:g.22245574G>A	NCBI36
NG_009791.1:g.11922C>T , LRG_69:g.11922C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330377.3:c.521C>T MANE Select	ENSP00000329312.2:p.Ala174Val
ENST00000249053.3:c.*150C>T	ENSP00000249053.3:n.*150C>T
ENST00000330377.2:c.521C>T	ENSP00000329312.2:p.Ala174Val
ENST00000438703.1:c.524C>T	ENSP00000403391.1:p.Ala175Val
NM_020070.3:c.521C>T	NP_064455.1:p.Ala174Val
NM_152855.2:c.*150C>T	NP_690594.1:n.*150C>T
XM_011530169.1:c.524C>T	XP_011528471.1:p.Ala175Val
XM_011530169.2:c.524C>T	XP_011528471.1:p.Ala175Val
NM_020070.4:c.521C>T MANE Select	NP_064455.1:p.Ala174Val
NM_001369906.1:c.524C>T	NP_001356835.1:p.Ala175Val
NM_152855.3:c.*150C>T	NP_690594.1:n.*150C>T