Canonical Allele Identifier: CA397641179

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 2124616
• ClinVar RCV Id: RCV003057250
• MyVariant Identifiers: chr17:g.2575979T>C (hg19) ; chr17:g.2672685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672685T>C , CM000679.2:g.2672685T>C	GRCh38
NC_000017.10:g.2575979T>C , CM000679.1:g.2575979T>C	GRCh37
NC_000017.9:g.2522729T>C	NCBI36
NG_009799.1:g.84057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.599T>C MANE Select	ENSP00000380378.4:p.Ile200Thr
ENST00000571495.2:n.382T>C
ENST00000674608.1:c.653T>C	ENSP00000501976.1:p.Ile218Thr
ENST00000674717.1:c.404T>C	ENSP00000501931.1:p.Ile135Thr
ENST00000675202.1:c.599T>C	ENSP00000502843.1:p.Ile200Thr
ENST00000675331.1:c.599T>C	ENSP00000502031.1:p.Ile200Thr
ENST00000675390.1:c.599T>C	ENSP00000501969.1:p.Ile200Thr
ENST00000675574.1:n.369T>C
ENST00000675621.1:c.599T>C	ENSP00000502117.1:p.Ile200Thr
ENST00000675764.1:c.*553T>C	ENSP00000502242.1:n.*553T>C
ENST00000676077.1:c.374-1375T>C	ENSP00000502507.1:n.374-1375T>C
ENST00000676098.1:c.599T>C	ENSP00000502735.1:p.Ile200Thr
ENST00000676188.1:c.599T>C	ENSP00000502577.1:p.Ile200Thr
ENST00000676353.1:c.404T>C	ENSP00000502737.1:p.Ile135Thr
ENST00000397193.7:n.407T>C
ENST00000397195.9:c.599T>C	ENSP00000380378.4:p.Ile200Thr
ENST00000572915.6:n.567T>C
ENST00000574468.1:c.95T>C	ENSP00000460591.1:p.Ile32Thr
ENST00000574816.5:n.31-3629T>C
NM_000430.3:c.599T>C	NP_000421.1:p.Ile200Thr
XM_011523901.1:c.653T>C	XP_011522203.1:p.Ile218Thr
XM_011523902.1:c.653T>C	XP_011522204.1:p.Ile218Thr
XM_011523903.1:c.653T>C	XP_011522205.1:p.Ile218Thr
XM_011523904.1:c.623-1375T>C	XP_011522206.1:n.623-1375T>C
XM_011523901.2:c.653T>C	XP_011522203.1:p.Ile218Thr
XM_011523902.3:c.653T>C	XP_011522204.1:p.Ile218Thr
XM_011523903.2:c.653T>C	XP_011522205.1:p.Ile218Thr
XM_017024701.1:c.599T>C	XP_016880190.1:p.Ile200Thr
XM_017024702.2:c.404T>C	XP_016880191.1:p.Ile135Thr
NM_000430.4:c.599T>C MANE Select	NP_000421.1:p.Ile200Thr