Canonical Allele Identifier: CA2573132357

Gene: MPL

Linked Data

• ClinVar Variation Id: 1634464
• ClinVar RCV Id: RCV002130699
• dbSNP Id: rs2153916206

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338090G>T , CM000663.2:g.43338090G>T	GRCh38
NC_000001.10:g.43803761G>T , CM000663.1:g.43803761G>T	GRCh37
NC_000001.9:g.43576348G>T	NCBI36
NG_007525.1:g.5287G>T , LRG_510:g.5287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.80-9G>T MANE Select	ENSP00000361548.3:n.80-9G>T
ENST00000413998.7:c.80-30G>T	ENSP00000414004.3:n.80-30G>T
ENST00000638732.1:n.80-9G>T
ENST00000372470.7:c.80-9G>T	ENSP00000361548.3:n.80-9G>T
ENST00000413998.6:c.80-9G>T	ENSP00000414004.2:n.80-9G>T
ENST00000612993.1:c.80-9G>T	ENSP00000480273.1:n.80-9G>T
NM_005373.2:c.80-9G>T , LRG_510t1:c.80-9G>T	NP_005364.1:n.80-9G>T
XM_011541478.1:c.80-30G>T	XP_011539780.1:n.80-30G>T
XM_017001320.1:c.242G>T	XP_016856809.1:p.Cys81Phe
NM_005373.3:c.80-9G>T MANE Select	NP_005364.1:n.80-9G>T