Canonical Allele Identifier: CA8720498

Gene: APOH

Linked Data

• dbSNP Id: rs778366478
• ExAC: 17:64224194 C / T
• gnomAD v2: 17-64224194-C-T
• gnomAD v3: 17-66228076-C-T
• gnomAD v4: 17-66228076-C-T
• COSMIC: COSM6016780
• MyVariant Identifiers: chr17:g.64224194C>T (hg19) ; chr17:g.66228076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.66228076C>T , CM000679.2:g.66228076C>T	GRCh38
NC_000017.10:g.64224194C>T , CM000679.1:g.64224194C>T	GRCh37
NC_000017.9:g.61654656C>T	NCBI36
NG_012045.1:g.6363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205948.11:c.185G>A MANE Select	ENSP00000205948.6:p.Arg62Lys
ENST00000205948.10:c.185G>A	ENSP00000205948.6:p.Arg62Lys
ENST00000577982.1:c.185G>A	ENSP00000464301.1:p.Arg62Lys
ENST00000581797.5:c.5G>A	ENSP00000463553.1:p.Arg2Lys
NM_000042.2:c.185G>A	NP_000033.2:p.Arg62Lys
NM_000042.3:c.185G>A MANE Select	NP_000033.2:p.Arg62Lys