Canonical Allele Identifier: CA10143285

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573516G>A , CM000684.2:g.23573516G>A	GRCh38
NC_000022.10:g.23915703G>A , CM000684.1:g.23915703G>A	GRCh37
NC_000022.9:g.22245703G>A	NCBI36
NG_009791.1:g.11793C>T , LRG_69:g.11793C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.392C>T MANE Select	NP_064455.1:p.Ala131Val
ENST00000330377.3:c.392C>T MANE Select	ENSP00000329312.2:p.Ala131Val
NM_001369906.1:c.395C>T	NP_001356835.1:p.Ala132Val
NM_020070.3:c.392C>T	NP_064455.1:p.Ala131Val
NM_152855.2:c.*21C>T	NP_690594.1:n.*21C>T
NM_152855.3:c.*21C>T	NP_690594.1:n.*21C>T
ENST00000249053.3:c.*21C>T	ENSP00000249053.3:n.*21C>T
ENST00000330377.2:c.392C>T	ENSP00000329312.2:p.Ala131Val
ENST00000438703.1:c.395C>T	ENSP00000403391.1:p.Ala132Val
XM_011530169.1:c.395C>T	XP_011528471.1:p.Ala132Val
XM_011530169.2:c.395C>T	XP_011528471.1:p.Ala132Val