Canonical Allele Identifier: CA397638819

Gene: PAFAH1B1

Linked Data

• COSMIC: COSM1722439
• MyVariant Identifiers: chr17:g.2570389C>T (hg19) ; chr17:g.2667095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667095C>T , CM000679.2:g.2667095C>T	GRCh38
NC_000017.10:g.2570389C>T , CM000679.1:g.2570389C>T	GRCh37
NC_000017.9:g.2517139C>T	NCBI36
NG_009799.1:g.78467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.296C>T MANE Select	ENSP00000380378.4:p.Pro99Leu
ENST00000674608.1:c.350C>T	ENSP00000501976.1:p.Pro117Leu
ENST00000674717.1:c.101C>T	ENSP00000501931.1:p.Pro34Leu
ENST00000675202.1:c.296C>T	ENSP00000502843.1:p.Pro99Leu
ENST00000675331.1:c.296C>T	ENSP00000502031.1:p.Pro99Leu
ENST00000675390.1:c.296C>T	ENSP00000501969.1:p.Pro99Leu
ENST00000675430.1:n.523C>T
ENST00000675621.1:c.296C>T	ENSP00000502117.1:p.Pro99Leu
ENST00000675764.1:c.*250C>T	ENSP00000502242.1:n.*250C>T
ENST00000676077.1:c.101C>T	ENSP00000502507.1:p.Pro34Leu
ENST00000676098.1:c.296C>T	ENSP00000502735.1:p.Pro99Leu
ENST00000676188.1:c.296C>T	ENSP00000502577.1:p.Pro99Leu
ENST00000676201.1:n.450C>T
ENST00000676353.1:c.101C>T	ENSP00000502737.1:p.Pro34Leu
ENST00000676456.1:n.401C>T
ENST00000397195.9:c.296C>T	ENSP00000380378.4:p.Pro99Leu
ENST00000570400.1:c.*166C>T	ENSP00000460258.1:n.*166C>T
ENST00000572915.6:n.376C>T
ENST00000574816.5:n.31-9219C>T
ENST00000609078.1:n.255C>T
NM_000430.3:c.296C>T	NP_000421.1:p.Pro99Leu
XM_011523901.1:c.350C>T	XP_011522203.1:p.Pro117Leu
XM_011523902.1:c.350C>T	XP_011522204.1:p.Pro117Leu
XM_011523903.1:c.350C>T	XP_011522205.1:p.Pro117Leu
XM_011523904.1:c.350C>T	XP_011522206.1:p.Pro117Leu
XM_011523901.2:c.350C>T	XP_011522203.1:p.Pro117Leu
XM_011523902.3:c.350C>T	XP_011522204.1:p.Pro117Leu
XM_011523903.2:c.350C>T	XP_011522205.1:p.Pro117Leu
XM_017024701.1:c.296C>T	XP_016880190.1:p.Pro99Leu
XM_017024702.2:c.101C>T	XP_016880191.1:p.Pro34Leu
NM_000430.4:c.296C>T MANE Select	NP_000421.1:p.Pro99Leu