Canonical Allele Identifier: CA397641392

Gene: PAFAH1B1

Linked Data

• COSMIC: COSM3969900
• MyVariant Identifiers: chr17:g.2576020A>G (hg19) ; chr17:g.2672726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672726A>G , CM000679.2:g.2672726A>G	GRCh38
NC_000017.10:g.2576020A>G , CM000679.1:g.2576020A>G	GRCh37
NC_000017.9:g.2522770A>G	NCBI36
NG_009799.1:g.84098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.640A>G MANE Select	ENSP00000380378.4:p.Lys214Glu
ENST00000571495.2:n.423A>G
ENST00000674608.1:c.694A>G	ENSP00000501976.1:p.Lys232Glu
ENST00000674717.1:c.445A>G	ENSP00000501931.1:p.Lys149Glu
ENST00000675202.1:c.640A>G	ENSP00000502843.1:p.Lys214Glu
ENST00000675331.1:c.640A>G	ENSP00000502031.1:p.Lys214Glu
ENST00000675390.1:c.640A>G	ENSP00000501969.1:p.Lys214Glu
ENST00000675574.1:n.410A>G
ENST00000675621.1:c.640A>G	ENSP00000502117.1:p.Lys214Glu
ENST00000675764.1:c.*594A>G	ENSP00000502242.1:n.*594A>G
ENST00000676077.1:c.374-1334A>G	ENSP00000502507.1:n.374-1334A>G
ENST00000676098.1:c.640A>G	ENSP00000502735.1:p.Lys214Glu
ENST00000676188.1:c.640A>G	ENSP00000502577.1:p.Lys214Glu
ENST00000676353.1:c.445A>G	ENSP00000502737.1:p.Lys149Glu
ENST00000397193.7:n.448A>G
ENST00000397195.9:c.640A>G	ENSP00000380378.4:p.Lys214Glu
ENST00000572915.6:n.608A>G
ENST00000574468.1:c.136A>G	ENSP00000460591.1:p.Lys46Glu
ENST00000574816.5:n.31-3588A>G
NM_000430.3:c.640A>G	NP_000421.1:p.Lys214Glu
XM_011523901.1:c.694A>G	XP_011522203.1:p.Lys232Glu
XM_011523902.1:c.694A>G	XP_011522204.1:p.Lys232Glu
XM_011523903.1:c.694A>G	XP_011522205.1:p.Lys232Glu
XM_011523904.1:c.623-1334A>G	XP_011522206.1:n.623-1334A>G
XM_011523901.2:c.694A>G	XP_011522203.1:p.Lys232Glu
XM_011523902.3:c.694A>G	XP_011522204.1:p.Lys232Glu
XM_011523903.2:c.694A>G	XP_011522205.1:p.Lys232Glu
XM_017024701.1:c.640A>G	XP_016880190.1:p.Lys214Glu
XM_017024702.2:c.445A>G	XP_016880191.1:p.Lys149Glu
NM_000430.4:c.640A>G MANE Select	NP_000421.1:p.Lys214Glu