Canonical Allele Identifier: CA341707

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 21182
• ClinVar RCV Id: RCV000020304 ; RCV000623782 ; RCV000494023 ; RCV001291184
• dbSNP Id: rs113994202
• MyVariant Identifiers: chr17:g.2575939T>C (hg19) ; chr17:g.2672645T>C (hg38)
• PubMed: PMID:9063735 ; PMID:9817918 ; PMID:11115846 ; PMID:11502906 ; PMID:12668601 ; PMID:17664403 ; PMID:20301752 ; PMID:24862549 ; PMID:27891766 ; PMID:28440899

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672645T>C , CM000679.2:g.2672645T>C	GRCh38
NC_000017.10:g.2575939T>C , CM000679.1:g.2575939T>C	GRCh37
NC_000017.9:g.2522689T>C	NCBI36
NG_009799.1:g.84017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.569-10T>C MANE Select	ENSP00000380378.4:n.569-10T>C
ENST00000571495.2:n.342T>C
ENST00000674608.1:c.623-10T>C	ENSP00000501976.1:n.623-10T>C
ENST00000674717.1:c.374-10T>C	ENSP00000501931.1:n.374-10T>C
ENST00000675202.1:c.569-10T>C	ENSP00000502843.1:n.569-10T>C
ENST00000675331.1:c.569-10T>C	ENSP00000502031.1:n.569-10T>C
ENST00000675390.1:c.569-10T>C	ENSP00000501969.1:n.569-10T>C
ENST00000675574.1:n.329T>C
ENST00000675621.1:c.569-10T>C	ENSP00000502117.1:n.569-10T>C
ENST00000675764.1:c.*523-10T>C	ENSP00000502242.1:n.*523-10T>C
ENST00000676077.1:c.374-1415T>C	ENSP00000502507.1:n.374-1415T>C
ENST00000676098.1:c.569-10T>C	ENSP00000502735.1:n.569-10T>C
ENST00000676188.1:c.569-10T>C	ENSP00000502577.1:n.569-10T>C
ENST00000676353.1:c.374-10T>C	ENSP00000502737.1:n.374-10T>C
ENST00000397193.7:n.377-10T>C
ENST00000397195.9:c.569-10T>C	ENSP00000380378.4:n.569-10T>C
ENST00000572915.6:n.537-10T>C
ENST00000574468.1:c.65-10T>C	ENSP00000460591.1:n.65-10T>C
ENST00000574816.5:n.31-3669T>C
NM_000430.3:c.569-10T>C	NP_000421.1:n.569-10T>C
XM_011523901.1:c.623-10T>C	XP_011522203.1:n.623-10T>C
XM_011523902.1:c.623-10T>C	XP_011522204.1:n.623-10T>C
XM_011523903.1:c.623-10T>C	XP_011522205.1:n.623-10T>C
XM_011523904.1:c.623-1415T>C	XP_011522206.1:n.623-1415T>C
XM_011523901.2:c.623-10T>C	XP_011522203.1:n.623-10T>C
XM_011523902.3:c.623-10T>C	XP_011522204.1:n.623-10T>C
XM_011523903.2:c.623-10T>C	XP_011522205.1:n.623-10T>C
XM_017024701.1:c.569-10T>C	XP_016880190.1:n.569-10T>C
XM_017024702.2:c.374-10T>C	XP_016880191.1:n.374-10T>C
NM_000430.4:c.569-10T>C MANE Select	NP_000421.1:n.569-10T>C