Canonical Allele Identifier: CA339988001

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43815000T>A (hg19) ; chr1:g.43349329T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349329T>A , CM000663.2:g.43349329T>A	GRCh38
NC_000001.10:g.43815000T>A , CM000663.1:g.43815000T>A	GRCh37
NC_000001.9:g.43587587T>A	NCBI36
NG_007525.1:g.16526T>A , LRG_510:g.16526T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1535T>A MANE Select	ENSP00000361548.3:p.Leu512Gln
ENST00000413998.7:c.1514T>A	ENSP00000414004.3:p.Leu505Gln
ENST00000638732.1:n.1535T>A
ENST00000643351.1:c.67T>A
ENST00000372470.7:c.1535T>A	ENSP00000361548.3:p.Leu512Gln
ENST00000413998.6:c.1535T>A	ENSP00000414004.2:p.Leu512Gln
ENST00000612993.1:c.1535T>A	ENSP00000480273.1:p.Leu512Gln
NM_005373.2:c.1535T>A , LRG_510t1:c.1535T>A	NP_005364.1:p.Leu512Gln
XM_011541478.1:c.1514T>A	XP_011539780.1:p.Leu505Gln
XM_017001320.1:c.1706T>A	XP_016856809.1:p.Leu569Gln
NM_005373.3:c.1535T>A MANE Select	NP_005364.1:p.Leu512Gln