Canonical Allele Identifier: CA513348076

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23575076C>T , CM000684.2:g.23575076C>T	GRCh38
NC_000022.10:g.23917263C>T , CM000684.1:g.23917263C>T	GRCh37
NC_000022.9:g.22247263C>T	NCBI36
NG_009791.1:g.10233G>A , LRG_69:g.10233G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.213G>A MANE Select	NP_064455.1:p.Leu71=
ENST00000330377.3:c.213G>A MANE Select	ENSP00000329312.2:p.Leu71=
NM_001369906.1:c.216G>A	NP_001356835.1:p.Leu72=
NM_020070.3:c.213G>A	NP_064455.1:p.Leu71=
NM_152855.2:c.207-1491G>A	NP_690594.1:n.207-1491G>A
NM_152855.3:c.207-1491G>A	NP_690594.1:n.207-1491G>A
ENST00000249053.3:c.207-1491G>A	ENSP00000249053.3:n.207-1491G>A
ENST00000330377.2:c.213G>A	ENSP00000329312.2:p.Leu71=
ENST00000438703.1:c.216G>A	ENSP00000403391.1:p.Leu72=
XM_011530169.1:c.216G>A	XP_011528471.1:p.Leu72=
XM_011530169.2:c.216G>A	XP_011528471.1:p.Leu72=