Canonical Allele Identifier: CA10143221

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573323C>A , CM000684.2:g.23573323C>A	GRCh38
NC_000022.10:g.23915510C>A , CM000684.1:g.23915510C>A	GRCh37
NC_000022.9:g.22245510C>A	NCBI36
NG_009791.1:g.11986G>T , LRG_69:g.11986G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.585G>T MANE Select	NP_064455.1:p.Gln195His
ENST00000330377.3:c.585G>T MANE Select	ENSP00000329312.2:p.Gln195His
NM_001369906.1:c.588G>T	NP_001356835.1:p.Gln196His
NM_020070.3:c.585G>T	NP_064455.1:p.Gln195His
NM_152855.2:c.*214G>T	NP_690594.1:n.*214G>T
NM_152855.3:c.*214G>T	NP_690594.1:n.*214G>T
ENST00000249053.3:c.*214G>T	ENSP00000249053.3:n.*214G>T
ENST00000330377.2:c.585G>T	ENSP00000329312.2:p.Gln195His
XM_011530169.1:c.588G>T	XP_011528471.1:p.Gln196His
XM_011530169.2:c.588G>T	XP_011528471.1:p.Gln196His