Canonical Allele Identifier: CA339976059

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43805639C>T (hg19) ; chr1:g.43339968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43339968C>T , CM000663.2:g.43339968C>T	GRCh38
NC_000001.10:g.43805639C>T , CM000663.1:g.43805639C>T	GRCh37
NC_000001.9:g.43578226C>T	NCBI36
NG_007525.1:g.7165C>T , LRG_510:g.7165C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.695C>T MANE Select	ENSP00000361548.3:p.Ser232Leu
ENST00000413998.7:c.674C>T	ENSP00000414004.3:p.Ser225Leu
ENST00000638732.1:n.695C>T
ENST00000372470.7:c.695C>T	ENSP00000361548.3:p.Ser232Leu
ENST00000413998.6:c.695C>T	ENSP00000414004.2:p.Ser232Leu
ENST00000612993.1:c.695C>T	ENSP00000480273.1:p.Ser232Leu
NM_005373.2:c.695C>T , LRG_510t1:c.695C>T	NP_005364.1:p.Ser232Leu
XM_011541478.1:c.674C>T	XP_011539780.1:p.Ser225Leu
XM_017001320.1:c.866C>T	XP_016856809.1:p.Ser289Leu
NM_005373.3:c.695C>T MANE Select	NP_005364.1:p.Ser232Leu