Canonical Allele Identifier: CA397642176

Gene: PAFAH1B1

Linked Data

• COSMIC: COSM6395214
• MyVariant Identifiers: chr17:g.2579824C>A (hg19) ; chr17:g.2676530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676530C>A , CM000679.2:g.2676530C>A	GRCh38
NC_000017.10:g.2579824C>A , CM000679.1:g.2579824C>A	GRCh37
NC_000017.9:g.2526574C>A	NCBI36
NG_009799.1:g.87902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.926C>A MANE Select	ENSP00000380378.4:p.Pro309Gln
ENST00000571495.2:n.2011C>A
ENST00000674608.1:c.980C>A	ENSP00000501976.1:p.Pro327Gln
ENST00000674717.1:c.731C>A	ENSP00000501931.1:p.Pro244Gln
ENST00000675084.1:n.180C>A
ENST00000675202.1:c.926C>A	ENSP00000502843.1:p.Pro309Gln
ENST00000675331.1:c.926C>A	ENSP00000502031.1:p.Pro309Gln
ENST00000675385.1:n.540C>A
ENST00000675390.1:c.926C>A	ENSP00000501969.1:p.Pro309Gln
ENST00000675574.1:n.3981C>A
ENST00000675621.1:c.926C>A	ENSP00000502117.1:p.Pro309Gln
ENST00000675764.1:c.*880C>A	ENSP00000502242.1:n.*880C>A
ENST00000676077.1:c.*244C>A	ENSP00000502507.1:n.*244C>A
ENST00000676098.1:c.926C>A	ENSP00000502735.1:p.Pro309Gln
ENST00000676188.1:c.926C>A	ENSP00000502577.1:p.Pro309Gln
ENST00000676353.1:c.731C>A	ENSP00000502737.1:p.Pro244Gln
ENST00000397193.7:n.734C>A
ENST00000397195.9:c.926C>A	ENSP00000380378.4:p.Pro309Gln
ENST00000571495.1:n.650C>A
ENST00000572915.6:n.676+2434C>A
ENST00000574468.1:c.396+2242C>A	ENSP00000460591.1:n.396+2242C>A
ENST00000574816.5:n.247C>A
NM_000430.3:c.926C>A	NP_000421.1:p.Pro309Gln
XM_011523901.1:c.980C>A	XP_011522203.1:p.Pro327Gln
XM_011523902.1:c.980C>A	XP_011522204.1:p.Pro327Gln
XM_011523903.1:c.980C>A	XP_011522205.1:p.Pro327Gln
XM_011523901.2:c.980C>A	XP_011522203.1:p.Pro327Gln
XM_011523902.3:c.980C>A	XP_011522204.1:p.Pro327Gln
XM_011523903.2:c.980C>A	XP_011522205.1:p.Pro327Gln
XM_017024701.1:c.926C>A	XP_016880190.1:p.Pro309Gln
XM_017024702.2:c.731C>A	XP_016880191.1:p.Pro244Gln
NM_000430.4:c.926C>A MANE Select	NP_000421.1:p.Pro309Gln