Canonical Allele Identifier: CA410898398
Community Standard Title: NM_020070.4(IGLL1):c.604A>T (p.Thr202Ser)
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573304T>A , CM000684.2:g.23573304T>A GRCh38
NC_000022.10:g.23915491T>A , CM000684.1:g.23915491T>A GRCh37
NC_000022.9:g.22245491T>A NCBI36
NG_009791.1:g.12005A>T , LRG_69:g.12005A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020070.4:c.604A>T MANE Select NP_064455.1:p.Thr202Ser
ENST00000330377.3:c.604A>T MANE Select ENSP00000329312.2:p.Thr202Ser
NM_001369906.1:c.607A>T NP_001356835.1:p.Thr203Ser
NM_020070.3:c.604A>T NP_064455.1:p.Thr202Ser
NM_152855.2:c.*233A>T NP_690594.1:n.*233A>T
NM_152855.3:c.*233A>T NP_690594.1:n.*233A>T
ENST00000249053.3:c.*233A>T ENSP00000249053.3:n.*233A>T
ENST00000330377.2:c.604A>T ENSP00000329312.2:p.Thr202Ser
XM_011530169.1:c.607A>T XP_011528471.1:p.Thr203Ser
XM_011530169.2:c.607A>T XP_011528471.1:p.Thr203Ser