Canonical Allele Identifier: CA339973526

Gene: MPL

Linked Data

• ClinVar Variation Id: 1726060
• ClinVar RCV Id: RCV002307031
• dbSNP Id: rs752682807
• MyVariant Identifiers: chr1:g.43804292C>T (hg19) ; chr1:g.43338621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338621C>T , CM000663.2:g.43338621C>T	GRCh38
NC_000001.10:g.43804292C>T , CM000663.1:g.43804292C>T	GRCh37
NC_000001.9:g.43576879C>T	NCBI36
NG_007525.1:g.5818C>T , LRG_510:g.5818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.292C>T MANE Select	ENSP00000361548.3:p.Gln98Ter
ENST00000413998.7:c.271C>T	ENSP00000414004.3:p.Gln91Ter
ENST00000638732.1:n.292C>T
ENST00000372470.7:c.292C>T	ENSP00000361548.3:p.Gln98Ter
ENST00000413998.6:c.292C>T	ENSP00000414004.2:p.Gln98Ter
ENST00000612993.1:c.292C>T	ENSP00000480273.1:p.Gln98Ter
NM_005373.2:c.292C>T , LRG_510t1:c.292C>T	NP_005364.1:p.Gln98Ter
XM_011541478.1:c.271C>T	XP_011539780.1:p.Gln91Ter
XM_017001320.1:c.463C>T	XP_016856809.1:p.Gln155Ter
NM_005373.3:c.292C>T MANE Select	NP_005364.1:p.Gln98Ter