Canonical Allele Identifier: CA339973569

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43804301G>C (hg19) ; chr1:g.43338630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338630G>C , CM000663.2:g.43338630G>C	GRCh38
NC_000001.10:g.43804301G>C , CM000663.1:g.43804301G>C	GRCh37
NC_000001.9:g.43576888G>C	NCBI36
NG_007525.1:g.5827G>C , LRG_510:g.5827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.301G>C MANE Select	ENSP00000361548.3:p.Val101Leu
ENST00000413998.7:c.280G>C	ENSP00000414004.3:p.Val94Leu
ENST00000638732.1:n.301G>C
ENST00000372470.7:c.301G>C	ENSP00000361548.3:p.Val101Leu
ENST00000413998.6:c.301G>C	ENSP00000414004.2:p.Val101Leu
ENST00000612993.1:c.301G>C	ENSP00000480273.1:p.Val101Leu
NM_005373.2:c.301G>C , LRG_510t1:c.301G>C	NP_005364.1:p.Val101Leu
XM_011541478.1:c.280G>C	XP_011539780.1:p.Val94Leu
XM_017001320.1:c.472G>C	XP_016856809.1:p.Val158Leu
NM_005373.3:c.301G>C MANE Select	NP_005364.1:p.Val101Leu