Canonical Allele Identifier: CA410898340

Gene: IGLL1

Linked Data

• MyVariant Identifiers: chr22:g.23915460C>T (hg19) ; chr22:g.23573273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573273C>T , CM000684.2:g.23573273C>T	GRCh38
NC_000022.10:g.23915460C>T , CM000684.1:g.23915460C>T	GRCh37
NC_000022.9:g.22245460C>T	NCBI36
NG_009791.1:g.12036G>A , LRG_69:g.12036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.635G>A MANE Select	ENSP00000329312.2:p.Cys212Tyr
ENST00000249053.3:c.*264G>A	ENSP00000249053.3:n.*264G>A
ENST00000330377.2:c.635G>A	ENSP00000329312.2:p.Cys212Tyr
NM_020070.3:c.635G>A	NP_064455.1:p.Cys212Tyr
NM_152855.2:c.*264G>A	NP_690594.1:n.*264G>A
XM_011530169.1:c.638G>A	XP_011528471.1:p.Cys213Tyr
XM_011530169.2:c.638G>A	XP_011528471.1:p.Cys213Tyr
NM_020070.4:c.635G>A MANE Select	NP_064455.1:p.Cys212Tyr
NM_001369906.1:c.638G>A	NP_001356835.1:p.Cys213Tyr
NM_152855.3:c.*264G>A	NP_690594.1:n.*264G>A