Canonical Allele Identifier: CA513685741

Gene: IGLL1

Linked Data

• dbSNP Id: rs1480909699
• MyVariant Identifiers: chr22:g.23915456T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573269T>C , CM000684.2:g.23573269T>C	GRCh38
NC_000022.10:g.23915456T>C , CM000684.1:g.23915456T>C	GRCh37
NC_000022.9:g.22245456T>C	NCBI36
NG_009791.1:g.12040A>G , LRG_69:g.12040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.639A>G MANE Select	ENSP00000329312.2:p.Ser213=
ENST00000249053.3:c.*268A>G	ENSP00000249053.3:n.*268A>G
ENST00000330377.2:c.639A>G	ENSP00000329312.2:p.Ser213=
NM_020070.3:c.639A>G	NP_064455.1:p.Ser213=
NM_152855.2:c.*268A>G	NP_690594.1:n.*268A>G
XM_011530169.1:c.642A>G	XP_011528471.1:p.Ser214=
XM_011530169.2:c.642A>G	XP_011528471.1:p.Ser214=
NM_020070.4:c.639A>G MANE Select	NP_064455.1:p.Ser213=
NM_001369906.1:c.642A>G	NP_001356835.1:p.Ser214=
NM_152855.3:c.*268A>G	NP_690594.1:n.*268A>G