Canonical Allele Identifier: CA397639897

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1522365
• ClinVar RCV Id: RCV002034390
• dbSNP Id: rs2151663968
• MyVariant Identifiers: chr17:g.2573488G>C (hg19) ; chr17:g.2670194G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2670194G>C , CM000679.2:g.2670194G>C	GRCh38
NC_000017.10:g.2573488G>C , CM000679.1:g.2573488G>C	GRCh37
NC_000017.9:g.2520238G>C	NCBI36
NG_009799.1:g.81566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.431G>C MANE Select	ENSP00000380378.4:p.Arg144Pro
ENST00000674608.1:c.485G>C	ENSP00000501976.1:p.Arg162Pro
ENST00000674717.1:c.236G>C	ENSP00000501931.1:p.Arg79Pro
ENST00000675202.1:c.431G>C	ENSP00000502843.1:p.Arg144Pro
ENST00000675331.1:c.431G>C	ENSP00000502031.1:p.Arg144Pro
ENST00000675390.1:c.431G>C	ENSP00000501969.1:p.Arg144Pro
ENST00000675430.1:n.658G>C
ENST00000675621.1:c.431G>C	ENSP00000502117.1:p.Arg144Pro
ENST00000675764.1:c.*385G>C	ENSP00000502242.1:n.*385G>C
ENST00000676077.1:c.236G>C	ENSP00000502507.1:p.Arg79Pro
ENST00000676098.1:c.431G>C	ENSP00000502735.1:p.Arg144Pro
ENST00000676188.1:c.431G>C	ENSP00000502577.1:p.Arg144Pro
ENST00000676201.1:n.585G>C
ENST00000676353.1:c.236G>C	ENSP00000502737.1:p.Arg79Pro
ENST00000676456.1:n.536G>C
ENST00000397193.7:n.239G>C
ENST00000397195.9:c.431G>C	ENSP00000380378.4:p.Arg144Pro
ENST00000572915.6:n.480-81G>C
ENST00000574816.5:n.31-6120G>C
ENST00000609078.1:n.390G>C
NM_000430.3:c.431G>C	NP_000421.1:p.Arg144Pro
XM_011523901.1:c.485G>C	XP_011522203.1:p.Arg162Pro
XM_011523902.1:c.485G>C	XP_011522204.1:p.Arg162Pro
XM_011523903.1:c.485G>C	XP_011522205.1:p.Arg162Pro
XM_011523904.1:c.485G>C	XP_011522206.1:p.Arg162Pro
XM_011523901.2:c.485G>C	XP_011522203.1:p.Arg162Pro
XM_011523902.3:c.485G>C	XP_011522204.1:p.Arg162Pro
XM_011523903.2:c.485G>C	XP_011522205.1:p.Arg162Pro
XM_017024701.1:c.431G>C	XP_016880190.1:p.Arg144Pro
XM_017024702.2:c.236G>C	XP_016880191.1:p.Arg79Pro
NM_000430.4:c.431G>C MANE Select	NP_000421.1:p.Arg144Pro