Canonical Allele Identifier: CA339973910

Gene: MPL

Linked Data

• gnomAD v4: 1-43338685-C-T
• COSMIC: COSM5369881
• MyVariant Identifiers: chr1:g.43804356C>T (hg19) ; chr1:g.43338685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338685C>T , CM000663.2:g.43338685C>T	GRCh38
NC_000001.10:g.43804356C>T , CM000663.1:g.43804356C>T	GRCh37
NC_000001.9:g.43576943C>T	NCBI36
NG_007525.1:g.5882C>T , LRG_510:g.5882C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.356C>T MANE Select	ENSP00000361548.3:p.Thr119Ile
ENST00000413998.7:c.335C>T	ENSP00000414004.3:p.Thr112Ile
ENST00000638732.1:n.356C>T
ENST00000372470.7:c.356C>T	ENSP00000361548.3:p.Thr119Ile
ENST00000413998.6:c.356C>T	ENSP00000414004.2:p.Thr119Ile
ENST00000612993.1:c.356C>T	ENSP00000480273.1:p.Thr119Ile
NM_005373.2:c.356C>T , LRG_510t1:c.356C>T	NP_005364.1:p.Thr119Ile
XM_011541478.1:c.335C>T	XP_011539780.1:p.Thr112Ile
XM_017001320.1:c.527C>T	XP_016856809.1:p.Thr176Ile
NM_005373.3:c.356C>T MANE Select	NP_005364.1:p.Thr119Ile