Canonical Allele Identifier: CA2655672800

Gene: IGLL1

Linked Data

• gnomAD v4: 22-23573147-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573147T>G , CM000684.2:g.23573147T>G	GRCh38
NC_000022.10:g.23915334T>G , CM000684.1:g.23915334T>G	GRCh37
NC_000022.9:g.22245334T>G	NCBI36
NG_009791.1:g.12162A>C , LRG_69:g.12162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.*119A>C MANE Select	ENSP00000329312.2:n.*119A>C
ENST00000249053.3:c.*390A>C	ENSP00000249053.3:n.*390A>C
ENST00000330377.2:c.*119A>C	ENSP00000329312.2:n.*119A>C
NM_020070.3:c.*119A>C	NP_064455.1:n.*119A>C
NM_152855.2:c.*390A>C	NP_690594.1:n.*390A>C
XM_011530169.1:c.*119A>C	XP_011528471.1:n.*119A>C
XM_011530169.2:c.*119A>C	XP_011528471.1:n.*119A>C
NM_020070.4:c.*119A>C MANE Select	NP_064455.1:n.*119A>C
NM_001369906.1:c.*119A>C	NP_001356835.1:n.*119A>C
NM_152855.3:c.*390A>C	NP_690594.1:n.*390A>C