Canonical Allele Identifier: CA410898592

Gene: IGLL1

Linked Data

• gnomAD v4: 22-23573395-G-T
• MyVariant Identifiers: chr22:g.23915582G>T (hg19) ; chr22:g.23573395G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573395G>T , CM000684.2:g.23573395G>T	GRCh38
NC_000022.10:g.23915582G>T , CM000684.1:g.23915582G>T	GRCh37
NC_000022.9:g.22245582G>T	NCBI36
NG_009791.1:g.11914C>A , LRG_69:g.11914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.513C>A MANE Select	ENSP00000329312.2:p.Asn171Lys
ENST00000249053.3:c.*142C>A	ENSP00000249053.3:n.*142C>A
ENST00000330377.2:c.513C>A	ENSP00000329312.2:p.Asn171Lys
ENST00000438703.1:c.516C>A	ENSP00000403391.1:p.Asn172Lys
NM_020070.3:c.513C>A	NP_064455.1:p.Asn171Lys
NM_152855.2:c.*142C>A	NP_690594.1:n.*142C>A
XM_011530169.1:c.516C>A	XP_011528471.1:p.Asn172Lys
XM_011530169.2:c.516C>A	XP_011528471.1:p.Asn172Lys
NM_020070.4:c.513C>A MANE Select	NP_064455.1:p.Asn171Lys
NM_001369906.1:c.516C>A	NP_001356835.1:p.Asn172Lys
NM_152855.3:c.*142C>A	NP_690594.1:n.*142C>A