Canonical Allele Identifier: CA397642312

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1408387783
• gnomAD v3: 17-2676590-T-C
• gnomAD v4: 17-2676590-T-C
• MyVariant Identifiers: chr17:g.2579884T>C (hg19) ; chr17:g.2676590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676590T>C , CM000679.2:g.2676590T>C	GRCh38
NC_000017.10:g.2579884T>C , CM000679.1:g.2579884T>C	GRCh37
NC_000017.9:g.2526634T>C	NCBI36
NG_009799.1:g.87962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.986T>C MANE Select	ENSP00000380378.4:p.Met329Thr
ENST00000571495.2:n.2071T>C
ENST00000674608.1:c.1040T>C	ENSP00000501976.1:p.Met347Thr
ENST00000674717.1:c.791T>C	ENSP00000501931.1:p.Met264Thr
ENST00000675084.1:n.240T>C
ENST00000675202.1:c.986T>C	ENSP00000502843.1:p.Met329Thr
ENST00000675331.1:c.986T>C	ENSP00000502031.1:p.Met329Thr
ENST00000675385.1:n.600T>C
ENST00000675390.1:c.986T>C	ENSP00000501969.1:p.Met329Thr
ENST00000675574.1:n.4041T>C
ENST00000675621.1:c.986T>C	ENSP00000502117.1:p.Met329Thr
ENST00000675764.1:c.*940T>C	ENSP00000502242.1:n.*940T>C
ENST00000676077.1:c.*304T>C	ENSP00000502507.1:n.*304T>C
ENST00000676098.1:c.986T>C	ENSP00000502735.1:p.Met329Thr
ENST00000676188.1:c.986T>C	ENSP00000502577.1:p.Met329Thr
ENST00000676353.1:c.791T>C	ENSP00000502737.1:p.Met264Thr
ENST00000397193.7:n.794T>C
ENST00000397195.9:c.986T>C	ENSP00000380378.4:p.Met329Thr
ENST00000571495.1:n.710T>C
ENST00000572915.6:n.676+2494T>C
ENST00000574468.1:c.396+2302T>C	ENSP00000460591.1:n.396+2302T>C
ENST00000574816.5:n.307T>C
NM_000430.3:c.986T>C	NP_000421.1:p.Met329Thr
XM_011523901.1:c.1040T>C	XP_011522203.1:p.Met347Thr
XM_011523902.1:c.1040T>C	XP_011522204.1:p.Met347Thr
XM_011523903.1:c.1040T>C	XP_011522205.1:p.Met347Thr
XM_011523901.2:c.1040T>C	XP_011522203.1:p.Met347Thr
XM_011523902.3:c.1040T>C	XP_011522204.1:p.Met347Thr
XM_011523903.2:c.1040T>C	XP_011522205.1:p.Met347Thr
XM_017024701.1:c.986T>C	XP_016880190.1:p.Met329Thr
XM_017024702.2:c.791T>C	XP_016880191.1:p.Met264Thr
NM_000430.4:c.986T>C MANE Select	NP_000421.1:p.Met329Thr