Canonical Allele Identifier: CA417417483

Gene: MPL

Linked Data

• ClinVar Variation Id: 1160546
• ClinVar RCV Id: RCV001504725
• dbSNP Id: rs2153916507
• MyVariant Identifiers: chr1:g.43804315T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338644T>C , CM000663.2:g.43338644T>C	GRCh38
NC_000001.10:g.43804315T>C , CM000663.1:g.43804315T>C	GRCh37
NC_000001.9:g.43576902T>C	NCBI36
NG_007525.1:g.5841T>C , LRG_510:g.5841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.315T>C MANE Select	ENSP00000361548.3:p.Phe105=
ENST00000413998.7:c.294T>C	ENSP00000414004.3:p.Phe98=
ENST00000638732.1:n.315T>C
ENST00000372470.7:c.315T>C	ENSP00000361548.3:p.Phe105=
ENST00000413998.6:c.315T>C	ENSP00000414004.2:p.Phe105=
ENST00000612993.1:c.315T>C	ENSP00000480273.1:p.Phe105=
NM_005373.2:c.315T>C , LRG_510t1:c.315T>C	NP_005364.1:p.Phe105=
XM_011541478.1:c.294T>C	XP_011539780.1:p.Phe98=
XM_017001320.1:c.486T>C	XP_016856809.1:p.Phe162=
NM_005373.3:c.315T>C MANE Select	NP_005364.1:p.Phe105=