Canonical Allele Identifier: CA513685750
Gene: IGLL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.23915468A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573281A>C , CM000684.2:g.23573281A>C GRCh38
NC_000022.10:g.23915468A>C , CM000684.1:g.23915468A>C GRCh37
NC_000022.9:g.22245468A>C NCBI36
NG_009791.1:g.12028T>G , LRG_69:g.12028T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.627T>G MANE Select ENSP00000329312.2:p.Pro209=
ENST00000249053.3:c.*256T>G ENSP00000249053.3:n.*256T>G
ENST00000330377.2:c.627T>G ENSP00000329312.2:p.Pro209=
NM_020070.3:c.627T>G NP_064455.1:p.Pro209=
NM_152855.2:c.*256T>G NP_690594.1:n.*256T>G
XM_011530169.1:c.630T>G XP_011528471.1:p.Pro210=
XM_011530169.2:c.630T>G XP_011528471.1:p.Pro210=
NM_020070.4:c.627T>G MANE Select NP_064455.1:p.Pro209=
NM_001369906.1:c.630T>G NP_001356835.1:p.Pro210=
NM_152855.3:c.*256T>G NP_690594.1:n.*256T>G