Canonical Allele Identifier: CA10139660

Gene: IGLL5 IGLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.22895597C>T , CM000684.2:g.22895597C>T	GRCh38
NC_000022.10:g.23237777C>T , CM000684.1:g.23237777C>T	GRCh37
NC_000022.9:g.21567777C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001178126.2:c.548C>T (IGLL5) MANE Select	NP_001171597.1:p.Thr183Met
ENST00000526893.6:c.548C>T (IGLL5) MANE Select	ENSP00000431254.1:p.Thr183Met
NM_001178126.1:c.548C>T (IGLL5)	NP_001171597.1:p.Thr183Met
NM_001256296.1:c.323C>T (IGLL5)	NP_001243225.1:p.Thr108Met
NM_001256296.2:c.323C>T (IGLL5)	NP_001243225.1:p.Thr108Met
ENST00000390321.2:c.223C>T (IGLC1)
ENST00000526893.5:c.548C>T (IGLL5)	ENSP00000431254.1:p.Thr183Met
ENST00000531372.1:c.*174C>T (IGLL5)	ENSP00000434368.1:n.*174C>T
ENST00000532223.2:c.551C>T (IGLL5)	ENSP00000436353.1:p.Thr184Met
XR_938048.1:n.1059-13473G>A