Canonical Allele Identifier: CA339987349

Gene: MPL

Linked Data

• ClinVar Variation Id: 571857
• ClinVar RCV Id: RCV002233559
• dbSNP Id: rs121913613
• MyVariant Identifiers: chr1:g.43814938G>C (hg19) ; chr1:g.43349267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349267G>C , CM000663.2:g.43349267G>C	GRCh38
NC_000001.10:g.43814938G>C , CM000663.1:g.43814938G>C	GRCh37
NC_000001.9:g.43587525G>C	NCBI36
NG_007525.1:g.16464G>C , LRG_510:g.16464G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1473G>C MANE Select	ENSP00000361548.3:p.Trp491Cys
ENST00000413998.7:c.1452G>C	ENSP00000414004.3:p.Trp484Cys
ENST00000638732.1:n.1473G>C
ENST00000643351.1:c.5G>C
ENST00000372470.7:c.1473G>C	ENSP00000361548.3:p.Trp491Cys
ENST00000413998.6:c.1473G>C	ENSP00000414004.2:p.Trp491Cys
ENST00000612993.1:c.1473G>C	ENSP00000480273.1:p.Trp491Cys
NM_005373.2:c.1473G>C , LRG_510t1:c.1473G>C	NP_005364.1:p.Trp491Cys
XM_011541478.1:c.1452G>C	XP_011539780.1:p.Trp484Cys
XM_017001320.1:c.1644G>C	XP_016856809.1:p.Trp548Cys
NM_005373.3:c.1473G>C MANE Select	NP_005364.1:p.Trp491Cys