Canonical Allele Identifier: CA339988118

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43815014T>G (hg19) ; chr1:g.43349343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349343T>G , CM000663.2:g.43349343T>G	GRCh38
NC_000001.10:g.43815014T>G , CM000663.1:g.43815014T>G	GRCh37
NC_000001.9:g.43587601T>G	NCBI36
NG_007525.1:g.16540T>G , LRG_510:g.16540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1549T>G MANE Select	ENSP00000361548.3:p.Phe517Val
ENST00000413998.7:c.1528T>G	ENSP00000414004.3:p.Phe510Val
ENST00000638732.1:n.1549T>G
ENST00000643351.1:c.81T>G
ENST00000372470.7:c.1549T>G	ENSP00000361548.3:p.Phe517Val
ENST00000413998.6:c.1549T>G	ENSP00000414004.2:p.Phe517Val
ENST00000612993.1:c.1549T>G	ENSP00000480273.1:p.Phe517Val
NM_005373.2:c.1549T>G , LRG_510t1:c.1549T>G	NP_005364.1:p.Phe517Val
XM_011541478.1:c.1528T>G	XP_011539780.1:p.Phe510Val
XM_017001320.1:c.1720T>G	XP_016856809.1:p.Phe574Val
NM_005373.3:c.1549T>G MANE Select	NP_005364.1:p.Phe517Val