Canonical Allele Identifier: CA497474042

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1934820
• ClinVar RCV Id: RCV002638822
• MyVariant Identifiers: chr17:g.2577444T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674150T>C , CM000679.2:g.2674150T>C	GRCh38
NC_000017.10:g.2577444T>C , CM000679.1:g.2577444T>C	GRCh37
NC_000017.9:g.2524194T>C	NCBI36
NG_009799.1:g.85522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.762T>C MANE Select	ENSP00000380378.4:p.Asn254=
ENST00000571495.2:n.1847T>C
ENST00000674608.1:c.816T>C	ENSP00000501976.1:p.Asn272=
ENST00000674717.1:c.567T>C	ENSP00000501931.1:p.Asn189=
ENST00000675202.1:c.762T>C	ENSP00000502843.1:p.Asn254=
ENST00000675331.1:c.762T>C	ENSP00000502031.1:p.Asn254=
ENST00000675390.1:c.762T>C	ENSP00000501969.1:p.Asn254=
ENST00000675574.1:n.1834T>C
ENST00000675621.1:c.762T>C	ENSP00000502117.1:p.Asn254=
ENST00000675764.1:c.*716T>C	ENSP00000502242.1:n.*716T>C
ENST00000676077.1:c.*80T>C	ENSP00000502507.1:n.*80T>C
ENST00000676098.1:c.762T>C	ENSP00000502735.1:p.Asn254=
ENST00000676188.1:c.762T>C	ENSP00000502577.1:p.Asn254=
ENST00000676353.1:c.567T>C	ENSP00000502737.1:p.Asn189=
ENST00000397193.7:n.570T>C
ENST00000397195.9:c.762T>C	ENSP00000380378.4:p.Asn254=
ENST00000571495.1:n.486T>C
ENST00000572915.6:n.676+54T>C
ENST00000574468.1:c.258T>C	ENSP00000460591.1:p.Asn86=
ENST00000574816.5:n.31-2164T>C
NM_000430.3:c.762T>C	NP_000421.1:p.Asn254=
XM_011523901.1:c.816T>C	XP_011522203.1:p.Asn272=
XM_011523902.1:c.816T>C	XP_011522204.1:p.Asn272=
XM_011523903.1:c.816T>C	XP_011522205.1:p.Asn272=
XM_011523901.2:c.816T>C	XP_011522203.1:p.Asn272=
XM_011523902.3:c.816T>C	XP_011522204.1:p.Asn272=
XM_011523903.2:c.816T>C	XP_011522205.1:p.Asn272=
XM_017024701.1:c.762T>C	XP_016880190.1:p.Asn254=
XM_017024702.2:c.567T>C	XP_016880191.1:p.Asn189=
NM_000430.4:c.762T>C MANE Select	NP_000421.1:p.Asn254=