Canonical Allele Identifier: CA410898595

Gene: IGLL1

Linked Data

• MyVariant Identifiers: chr22:g.23915584T>A (hg19) ; chr22:g.23573397T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573397T>A , CM000684.2:g.23573397T>A	GRCh38
NC_000022.10:g.23915584T>A , CM000684.1:g.23915584T>A	GRCh37
NC_000022.9:g.22245584T>A	NCBI36
NG_009791.1:g.11912A>T , LRG_69:g.11912A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.511A>T MANE Select	ENSP00000329312.2:p.Asn171Tyr
ENST00000249053.3:c.*140A>T	ENSP00000249053.3:n.*140A>T
ENST00000330377.2:c.511A>T	ENSP00000329312.2:p.Asn171Tyr
ENST00000438703.1:c.514A>T	ENSP00000403391.1:p.Asn172Tyr
NM_020070.3:c.511A>T	NP_064455.1:p.Asn171Tyr
NM_152855.2:c.*140A>T	NP_690594.1:n.*140A>T
XM_011530169.1:c.514A>T	XP_011528471.1:p.Asn172Tyr
XM_011530169.2:c.514A>T	XP_011528471.1:p.Asn172Tyr
NM_020070.4:c.511A>T MANE Select	NP_064455.1:p.Asn171Tyr
NM_001369906.1:c.514A>T	NP_001356835.1:p.Asn172Tyr
NM_152855.3:c.*140A>T	NP_690594.1:n.*140A>T