Canonical Allele Identifier: CA397641927

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2577500G>T (hg19) ; chr17:g.2674206G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674206G>T , CM000679.2:g.2674206G>T	GRCh38
NC_000017.10:g.2577500G>T , CM000679.1:g.2577500G>T	GRCh37
NC_000017.9:g.2524250G>T	NCBI36
NG_009799.1:g.85578G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.818G>T MANE Select	ENSP00000380378.4:p.Arg273Leu
ENST00000571495.2:n.1903G>T
ENST00000674608.1:c.872G>T	ENSP00000501976.1:p.Arg291Leu
ENST00000674717.1:c.623G>T	ENSP00000501931.1:p.Arg208Leu
ENST00000675202.1:c.818G>T	ENSP00000502843.1:p.Arg273Leu
ENST00000675331.1:c.818G>T	ENSP00000502031.1:p.Arg273Leu
ENST00000675390.1:c.818G>T	ENSP00000501969.1:p.Arg273Leu
ENST00000675574.1:n.1890G>T
ENST00000675621.1:c.818G>T	ENSP00000502117.1:p.Arg273Leu
ENST00000675764.1:c.*772G>T	ENSP00000502242.1:n.*772G>T
ENST00000676077.1:c.*136G>T	ENSP00000502507.1:n.*136G>T
ENST00000676098.1:c.818G>T	ENSP00000502735.1:p.Arg273Leu
ENST00000676188.1:c.818G>T	ENSP00000502577.1:p.Arg273Leu
ENST00000676353.1:c.623G>T	ENSP00000502737.1:p.Arg208Leu
ENST00000397193.7:n.626G>T
ENST00000397195.9:c.818G>T	ENSP00000380378.4:p.Arg273Leu
ENST00000571495.1:n.542G>T
ENST00000572915.6:n.676+110G>T
ENST00000574468.1:c.314G>T	ENSP00000460591.1:p.Arg105Leu
ENST00000574816.5:n.31-2108G>T
NM_000430.3:c.818G>T	NP_000421.1:p.Arg273Leu
XM_011523901.1:c.872G>T	XP_011522203.1:p.Arg291Leu
XM_011523902.1:c.872G>T	XP_011522204.1:p.Arg291Leu
XM_011523903.1:c.872G>T	XP_011522205.1:p.Arg291Leu
XM_011523901.2:c.872G>T	XP_011522203.1:p.Arg291Leu
XM_011523902.3:c.872G>T	XP_011522204.1:p.Arg291Leu
XM_011523903.2:c.872G>T	XP_011522205.1:p.Arg291Leu
XM_017024701.1:c.818G>T	XP_016880190.1:p.Arg273Leu
XM_017024702.2:c.623G>T	XP_016880191.1:p.Arg208Leu
NM_000430.4:c.818G>T MANE Select	NP_000421.1:p.Arg273Leu