Canonical Allele Identifier: CA339988384

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43815032T>G (hg19) ; chr1:g.43349361T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349361T>G , CM000663.2:g.43349361T>G	GRCh38
NC_000001.10:g.43815032T>G , CM000663.1:g.43815032T>G	GRCh37
NC_000001.9:g.43587619T>G	NCBI36
NG_007525.1:g.16558T>G , LRG_510:g.16558T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1565+2T>G MANE Select	ENSP00000361548.3:n.1565+2T>G
ENST00000413998.7:c.1544+2T>G	ENSP00000414004.3:n.1544+2T>G
ENST00000638732.1:n.1567T>G
ENST00000643351.1:c.97+2T>G
ENST00000372470.7:c.1565+2T>G	ENSP00000361548.3:n.1565+2T>G
ENST00000413998.6:c.1567T>G	ENSP00000414004.2:p.Tyr523Asp
ENST00000612993.1:c.1567T>G	ENSP00000480273.1:p.Tyr523Asp
NM_005373.2:c.1565+2T>G , LRG_510t1:c.1565+2T>G	NP_005364.1:n.1565+2T>G
XM_011541478.1:c.1544+2T>G	XP_011539780.1:n.1544+2T>G
XM_017001320.1:c.1736+2T>G	XP_016856809.1:n.1736+2T>G
NM_005373.3:c.1565+2T>G MANE Select	NP_005364.1:n.1565+2T>G