Canonical Allele Identifier: CA339987466

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43814947G>T (hg19) ; chr1:g.43349276G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349276G>T , CM000663.2:g.43349276G>T	GRCh38
NC_000001.10:g.43814947G>T , CM000663.1:g.43814947G>T	GRCh37
NC_000001.9:g.43587534G>T	NCBI36
NG_007525.1:g.16473G>T , LRG_510:g.16473G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1482G>T MANE Select	ENSP00000361548.3:p.Leu494Phe
ENST00000413998.7:c.1461G>T	ENSP00000414004.3:p.Leu487Phe
ENST00000638732.1:n.1482G>T
ENST00000643351.1:c.14G>T
ENST00000372470.7:c.1482G>T	ENSP00000361548.3:p.Leu494Phe
ENST00000413998.6:c.1482G>T	ENSP00000414004.2:p.Leu494Phe
ENST00000612993.1:c.1482G>T	ENSP00000480273.1:p.Leu494Phe
NM_005373.2:c.1482G>T , LRG_510t1:c.1482G>T	NP_005364.1:p.Leu494Phe
XM_011541478.1:c.1461G>T	XP_011539780.1:p.Leu487Phe
XM_017001320.1:c.1653G>T	XP_016856809.1:p.Leu551Phe
NM_005373.3:c.1482G>T MANE Select	NP_005364.1:p.Leu494Phe