Canonical Allele Identifier: CA410898580

Gene: IGLL1

Linked Data

• MyVariant Identifiers: chr22:g.23915577T>G (hg19) ; chr22:g.23573390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573390T>G , CM000684.2:g.23573390T>G	GRCh38
NC_000022.10:g.23915577T>G , CM000684.1:g.23915577T>G	GRCh37
NC_000022.9:g.22245577T>G	NCBI36
NG_009791.1:g.11919A>C , LRG_69:g.11919A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330377.3:c.518A>C MANE Select	ENSP00000329312.2:p.Tyr173Ser
ENST00000249053.3:c.*147A>C	ENSP00000249053.3:n.*147A>C
ENST00000330377.2:c.518A>C	ENSP00000329312.2:p.Tyr173Ser
ENST00000438703.1:c.521A>C	ENSP00000403391.1:p.Tyr174Ser
NM_020070.3:c.518A>C	NP_064455.1:p.Tyr173Ser
NM_152855.2:c.*147A>C	NP_690594.1:n.*147A>C
XM_011530169.1:c.521A>C	XP_011528471.1:p.Tyr174Ser
XM_011530169.2:c.521A>C	XP_011528471.1:p.Tyr174Ser
NM_020070.4:c.518A>C MANE Select	NP_064455.1:p.Tyr173Ser
NM_001369906.1:c.521A>C	NP_001356835.1:p.Tyr174Ser
NM_152855.3:c.*147A>C	NP_690594.1:n.*147A>C