Canonical Allele Identifier: CA10143194
Gene: IGLL1 HGNC NCBI

Linked Data

dbSNP Id: rs775179800

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.635G>T MANE Select ENSP00000329312.2:p.Cys212Phe
ENST00000249053.3:c.*264G>T ENSP00000249053.3:n.*264G>T
ENST00000330377.2:c.635G>T ENSP00000329312.2:p.Cys212Phe
NM_020070.3:c.635G>T NP_064455.1:p.Cys212Phe
NM_152855.2:c.*264G>T NP_690594.1:n.*264G>T
XM_011530169.1:c.638G>T XP_011528471.1:p.Cys213Phe
XM_011530169.2:c.638G>T XP_011528471.1:p.Cys213Phe
NM_020070.4:c.635G>T MANE Select NP_064455.1:p.Cys212Phe
NM_001369906.1:c.638G>T NP_001356835.1:p.Cys213Phe
NM_152855.3:c.*264G>T NP_690594.1:n.*264G>T