Canonical Allele Identifier: CA397642193

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2579831G>T (hg19) ; chr17:g.2676537G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.933G>T MANE Select	ENSP00000380378.4:p.Leu311Phe
ENST00000571495.2:n.2018G>T
ENST00000674608.1:c.987G>T	ENSP00000501976.1:p.Leu329Phe
ENST00000674717.1:c.738G>T	ENSP00000501931.1:p.Leu246Phe
ENST00000675084.1:n.187G>T
ENST00000675202.1:c.933G>T	ENSP00000502843.1:p.Leu311Phe
ENST00000675331.1:c.933G>T	ENSP00000502031.1:p.Leu311Phe
ENST00000675385.1:n.547G>T
ENST00000675390.1:c.933G>T	ENSP00000501969.1:p.Leu311Phe
ENST00000675574.1:n.3988G>T
ENST00000675621.1:c.933G>T	ENSP00000502117.1:p.Leu311Phe
ENST00000675764.1:c.*887G>T	ENSP00000502242.1:n.*887G>T
ENST00000676077.1:c.*251G>T	ENSP00000502507.1:n.*251G>T
ENST00000676098.1:c.933G>T	ENSP00000502735.1:p.Leu311Phe
ENST00000676188.1:c.933G>T	ENSP00000502577.1:p.Leu311Phe
ENST00000676353.1:c.738G>T	ENSP00000502737.1:p.Leu246Phe
ENST00000397193.7:n.741G>T
ENST00000397195.9:c.933G>T	ENSP00000380378.4:p.Leu311Phe
ENST00000571495.1:n.657G>T
ENST00000572915.6:n.676+2441G>T
ENST00000574468.1:c.396+2249G>T	ENSP00000460591.1:n.396+2249G>T
ENST00000574816.5:n.254G>T
NM_000430.3:c.933G>T	NP_000421.1:p.Leu311Phe
XM_011523901.1:c.987G>T	XP_011522203.1:p.Leu329Phe
XM_011523902.1:c.987G>T	XP_011522204.1:p.Leu329Phe
XM_011523903.1:c.987G>T	XP_011522205.1:p.Leu329Phe
XM_011523901.2:c.987G>T	XP_011522203.1:p.Leu329Phe
XM_011523902.3:c.987G>T	XP_011522204.1:p.Leu329Phe
XM_011523903.2:c.987G>T	XP_011522205.1:p.Leu329Phe
XM_017024701.1:c.933G>T	XP_016880190.1:p.Leu311Phe
XM_017024702.2:c.738G>T	XP_016880191.1:p.Leu246Phe
NM_000430.4:c.933G>T MANE Select	NP_000421.1:p.Leu311Phe