Canonical Allele Identifier: CA410898336

Gene: IGLL1

Linked Data

• MyVariant Identifiers: chr22:g.23915458A>G (hg19) ; chr22:g.23573271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573271A>G , CM000684.2:g.23573271A>G	GRCh38
NC_000022.10:g.23915458A>G , CM000684.1:g.23915458A>G	GRCh37
NC_000022.9:g.22245458A>G	NCBI36
NG_009791.1:g.12038T>C , LRG_69:g.12038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.637T>C MANE Select	ENSP00000329312.2:p.Ser213Pro
ENST00000249053.3:c.*266T>C	ENSP00000249053.3:n.*266T>C
ENST00000330377.2:c.637T>C	ENSP00000329312.2:p.Ser213Pro
NM_020070.3:c.637T>C	NP_064455.1:p.Ser213Pro
NM_152855.2:c.*266T>C	NP_690594.1:n.*266T>C
XM_011530169.1:c.640T>C	XP_011528471.1:p.Ser214Pro
XM_011530169.2:c.640T>C	XP_011528471.1:p.Ser214Pro
NM_020070.4:c.637T>C MANE Select	NP_064455.1:p.Ser213Pro
NM_001369906.1:c.640T>C	NP_001356835.1:p.Ser214Pro
NM_152855.3:c.*266T>C	NP_690594.1:n.*266T>C