Canonical Allele Identifier: CA497425642

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1619799
• ClinVar RCV Id: RCV002089121
• dbSNP Id: rs2069270565
• gnomAD v4: 17-2676537-G-A
• MyVariant Identifiers: chr17:g.2579831G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676537G>A , CM000679.2:g.2676537G>A	GRCh38
NC_000017.10:g.2579831G>A , CM000679.1:g.2579831G>A	GRCh37
NC_000017.9:g.2526581G>A	NCBI36
NG_009799.1:g.87909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.933G>A MANE Select	ENSP00000380378.4:p.Leu311=
ENST00000571495.2:n.2018G>A
ENST00000674608.1:c.987G>A	ENSP00000501976.1:p.Leu329=
ENST00000674717.1:c.738G>A	ENSP00000501931.1:p.Leu246=
ENST00000675084.1:n.187G>A
ENST00000675202.1:c.933G>A	ENSP00000502843.1:p.Leu311=
ENST00000675331.1:c.933G>A	ENSP00000502031.1:p.Leu311=
ENST00000675385.1:n.547G>A
ENST00000675390.1:c.933G>A	ENSP00000501969.1:p.Leu311=
ENST00000675574.1:n.3988G>A
ENST00000675621.1:c.933G>A	ENSP00000502117.1:p.Leu311=
ENST00000675764.1:c.*887G>A	ENSP00000502242.1:n.*887G>A
ENST00000676077.1:c.*251G>A	ENSP00000502507.1:n.*251G>A
ENST00000676098.1:c.933G>A	ENSP00000502735.1:p.Leu311=
ENST00000676188.1:c.933G>A	ENSP00000502577.1:p.Leu311=
ENST00000676353.1:c.738G>A	ENSP00000502737.1:p.Leu246=
ENST00000397193.7:n.741G>A
ENST00000397195.9:c.933G>A	ENSP00000380378.4:p.Leu311=
ENST00000571495.1:n.657G>A
ENST00000572915.6:n.676+2441G>A
ENST00000574468.1:c.396+2249G>A	ENSP00000460591.1:n.396+2249G>A
ENST00000574816.5:n.254G>A
NM_000430.3:c.933G>A	NP_000421.1:p.Leu311=
XM_011523901.1:c.987G>A	XP_011522203.1:p.Leu329=
XM_011523902.1:c.987G>A	XP_011522204.1:p.Leu329=
XM_011523903.1:c.987G>A	XP_011522205.1:p.Leu329=
XM_011523901.2:c.987G>A	XP_011522203.1:p.Leu329=
XM_011523902.3:c.987G>A	XP_011522204.1:p.Leu329=
XM_011523903.2:c.987G>A	XP_011522205.1:p.Leu329=
XM_017024701.1:c.933G>A	XP_016880190.1:p.Leu311=
XM_017024702.2:c.738G>A	XP_016880191.1:p.Leu246=
NM_000430.4:c.933G>A MANE Select	NP_000421.1:p.Leu311=