Canonical Allele Identifier: CA10143212
Community Standard Title: NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser)
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573303G>C , CM000684.2:g.23573303G>C GRCh38
NC_000022.10:g.23915490G>C , CM000684.1:g.23915490G>C GRCh37
NC_000022.9:g.22245490G>C NCBI36
NG_009791.1:g.12006C>G , LRG_69:g.12006C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020070.4:c.605C>G MANE Select NP_064455.1:p.Thr202Ser
ENST00000330377.3:c.605C>G MANE Select ENSP00000329312.2:p.Thr202Ser
NM_001369906.1:c.608C>G NP_001356835.1:p.Thr203Ser
NM_020070.3:c.605C>G NP_064455.1:p.Thr202Ser
NM_152855.2:c.*234C>G NP_690594.1:n.*234C>G
NM_152855.3:c.*234C>G NP_690594.1:n.*234C>G
ENST00000249053.3:c.*234C>G ENSP00000249053.3:n.*234C>G
ENST00000330377.2:c.605C>G ENSP00000329312.2:p.Thr202Ser
XM_011530169.1:c.608C>G XP_011528471.1:p.Thr203Ser
XM_011530169.2:c.608C>G XP_011528471.1:p.Thr203Ser