Canonical Allele Identifier: CA410898337

Gene: IGLL1

Linked Data

• MyVariant Identifiers: chr22:g.23915459A>C (hg19) ; chr22:g.23573272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573272A>C , CM000684.2:g.23573272A>C	GRCh38
NC_000022.10:g.23915459A>C , CM000684.1:g.23915459A>C	GRCh37
NC_000022.9:g.22245459A>C	NCBI36
NG_009791.1:g.12037T>G , LRG_69:g.12037T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.636T>G MANE Select	ENSP00000329312.2:p.Cys212Trp
ENST00000249053.3:c.*265T>G	ENSP00000249053.3:n.*265T>G
ENST00000330377.2:c.636T>G	ENSP00000329312.2:p.Cys212Trp
NM_020070.3:c.636T>G	NP_064455.1:p.Cys212Trp
NM_152855.2:c.*265T>G	NP_690594.1:n.*265T>G
XM_011530169.1:c.639T>G	XP_011528471.1:p.Cys213Trp
XM_011530169.2:c.639T>G	XP_011528471.1:p.Cys213Trp
NM_020070.4:c.636T>G MANE Select	NP_064455.1:p.Cys212Trp
NM_001369906.1:c.639T>G	NP_001356835.1:p.Cys213Trp
NM_152855.3:c.*265T>G	NP_690594.1:n.*265T>G