Canonical Allele Identifier: CA10143248
Gene: IGLL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439822
ClinVar RCV Id: RCV000508166
dbSNP Id: rs1064421
ExAC: 22:23915583 T / C
gnomAD v2: 22-23915583-T-C
gnomAD v3: 22-23573396-T-C
gnomAD v4: 22-23573396-T-C
MyVariant Identifiers: chr22:g.23915583T>C (hg19) chr22:g.23573396T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573396T>C , CM000684.2:g.23573396T>C GRCh38
NC_000022.10:g.23915583T>C , CM000684.1:g.23915583T>C GRCh37
NC_000022.9:g.22245583T>C NCBI36
NG_009791.1:g.11913A>G , LRG_69:g.11913A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.512A>G MANE Select ENSP00000329312.2:p.Asn171Ser
ENST00000249053.3:c.*141A>G ENSP00000249053.3:n.*141A>G
ENST00000330377.2:c.512A>G ENSP00000329312.2:p.Asn171Ser
ENST00000438703.1:c.515A>G ENSP00000403391.1:p.Asn172Ser
NM_020070.3:c.512A>G NP_064455.1:p.Asn171Ser
NM_152855.2:c.*141A>G NP_690594.1:n.*141A>G
XM_011530169.1:c.515A>G XP_011528471.1:p.Asn172Ser
XM_011530169.2:c.515A>G XP_011528471.1:p.Asn172Ser
NM_020070.4:c.512A>G MANE Select NP_064455.1:p.Asn171Ser
NM_001369906.1:c.515A>G NP_001356835.1:p.Asn172Ser
NM_152855.3:c.*141A>G NP_690594.1:n.*141A>G
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