Canonical Allele Identifier: CA119277

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 8076
• ClinVar RCV Id: RCV000008543
• dbSNP Id: rs121434484
• MyVariant Identifiers: chr17:g.2573562T>C (hg19) ; chr17:g.2670268T>C (hg38)
• PubMed: PMID:10441340 ; PMID:11502906

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2670268T>C , CM000679.2:g.2670268T>C	GRCh38
NC_000017.10:g.2573562T>C , CM000679.1:g.2573562T>C	GRCh37
NC_000017.9:g.2520312T>C	NCBI36
NG_009799.1:g.81640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.505T>C MANE Select	ENSP00000380378.4:p.Ser169Pro
ENST00000674608.1:c.559T>C	ENSP00000501976.1:p.Ser187Pro
ENST00000674717.1:c.310T>C	ENSP00000501931.1:p.Ser104Pro
ENST00000675202.1:c.505T>C	ENSP00000502843.1:p.Ser169Pro
ENST00000675331.1:c.505T>C	ENSP00000502031.1:p.Ser169Pro
ENST00000675390.1:c.505T>C	ENSP00000501969.1:p.Ser169Pro
ENST00000675430.1:n.732T>C
ENST00000675621.1:c.505T>C	ENSP00000502117.1:p.Ser169Pro
ENST00000675764.1:c.*459T>C	ENSP00000502242.1:n.*459T>C
ENST00000676077.1:c.310T>C	ENSP00000502507.1:p.Ser104Pro
ENST00000676098.1:c.505T>C	ENSP00000502735.1:p.Ser169Pro
ENST00000676188.1:c.505T>C	ENSP00000502577.1:p.Ser169Pro
ENST00000676201.1:n.659T>C
ENST00000676353.1:c.310T>C	ENSP00000502737.1:p.Ser104Pro
ENST00000676456.1:n.610T>C
ENST00000397193.7:n.313T>C
ENST00000397195.9:c.505T>C	ENSP00000380378.4:p.Ser169Pro
ENST00000572915.6:n.480-7T>C
ENST00000574468.1:c.1T>C	ENSP00000460591.1:p.Ser1Pro
ENST00000574816.5:n.31-6046T>C
ENST00000609078.1:n.464T>C
NM_000430.3:c.505T>C	NP_000421.1:p.Ser169Pro
XM_011523901.1:c.559T>C	XP_011522203.1:p.Ser187Pro
XM_011523902.1:c.559T>C	XP_011522204.1:p.Ser187Pro
XM_011523903.1:c.559T>C	XP_011522205.1:p.Ser187Pro
XM_011523904.1:c.559T>C	XP_011522206.1:p.Ser187Pro
XM_011523901.2:c.559T>C	XP_011522203.1:p.Ser187Pro
XM_011523902.3:c.559T>C	XP_011522204.1:p.Ser187Pro
XM_011523903.2:c.559T>C	XP_011522205.1:p.Ser187Pro
XM_017024701.1:c.505T>C	XP_016880190.1:p.Ser169Pro
XM_017024702.2:c.310T>C	XP_016880191.1:p.Ser104Pro
NM_000430.4:c.505T>C MANE Select	NP_000421.1:p.Ser169Pro