Canonical Allele Identifier: CA7585109

Gene: LIPC

Linked Data

• ClinVar Variation Id: 316672
• ClinVar RCV Id: RCV000325734 ; RCV000884747 ; RCV002504083 ; RCV003972349
• dbSNP Id: rs140272400
• ExAC: 15:58853075 A / G
• gnomAD v2: 15-58853075-A-G
• gnomAD v3: 15-58560876-A-G
• gnomAD v4: 15-58560876-A-G
• MyVariant Identifiers: chr15:g.58853075A>G (hg19) ; chr15:g.58560876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58560876A>G , CM000677.2:g.58560876A>G	GRCh38
NC_000015.9:g.58853075A>G , CM000677.1:g.58853075A>G	GRCh37
NC_000015.8:g.56640367A>G	NCBI36
NG_011465.1:g.133901A>G
NG_011465.2:g.133901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299022.10:c.1064A>G MANE Select	ENSP00000299022.5:p.Gln355Arg
ENST00000299022.9:c.1064A>G	ENSP00000299022.5:p.Gln355Arg
ENST00000356113.10:c.1064A>G	ENSP00000348425.6:p.Gln355Arg
ENST00000414170.7:c.1064A>G	ENSP00000395569.3:p.Gln355Arg
ENST00000433326.2:c.881A>G	ENSP00000395002.2:p.Gln294Arg
ENST00000559845.5:n.921A>G
NM_000236.2:c.1064A>G	NP_000227.2:p.Gln355Arg
XM_005254372.1:c.1064A>G	XP_005254429.1:p.Gln355Arg
XM_005254374.3:c.1001A>G	XP_005254431.1:p.Gln334Arg
XM_006720502.2:c.923A>G	XP_006720565.1:p.Gln308Arg
XM_005254374.4:c.1100A>G	XP_005254431.2:p.Gln367Arg
XM_006720502.4:c.923A>G	XP_006720565.1:p.Gln308Arg
XM_024449916.1:c.1064A>G	XP_024305684.1:p.Gln355Arg
XM_024449917.1:c.1064A>G	XP_024305685.1:p.Gln355Arg
NM_000236.3:c.1064A>G MANE Select	NP_000227.2:p.Gln355Arg