Canonical Allele Identifier: CA645528778

Gene: MPL

Linked Data

• ClinVar Variation Id: 2949583
• ClinVar RCV Id: RCV003804749
• COSMIC: COSM27289

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349337_43349338delinsGC , CM000663.2:g.43349337_43349338delinsGC	GRCh38
NC_000001.10:g.43815008_43815009delinsGC , CM000663.1:g.43815008_43815009delinsGC	GRCh37
NC_000001.9:g.43587595_43587596delinsGC	NCBI36
NG_007525.1:g.16534_16535delinsGC , LRG_510:g.16534_16535delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1543_1544delinsGC MANE Select	ENSP00000361548.3:p.Trp515Ala
ENST00000413998.7:c.1522_1523delinsGC	ENSP00000414004.3:p.Trp508Ala
ENST00000638732.1:n.1543_1544delinsGC
ENST00000643351.1:c.75_76delinsGC
ENST00000372470.7:c.1543_1544delinsGC	ENSP00000361548.3:p.Trp515Ala
ENST00000413998.6:c.1543_1544delinsGC	ENSP00000414004.2:p.Trp515Ala
ENST00000612993.1:c.1543_1544delinsGC	ENSP00000480273.1:p.Trp515Ala
NM_005373.2:c.1543_1544delinsGC , LRG_510t1:c.1543_1544delinsGC	NP_005364.1:p.Trp515Ala
XM_011541478.1:c.1522_1523delinsGC	XP_011539780.1:p.Trp508Ala
XM_017001320.1:c.1714_1715delinsGC	XP_016856809.1:p.Trp572Ala
NM_005373.3:c.1543_1544delinsGC MANE Select	NP_005364.1:p.Trp515Ala