Canonical Allele Identifier: CA339973597

Gene: MPL

Linked Data

• gnomAD v4: 1-43338637-T-C
• MyVariant Identifiers: chr1:g.43804308T>C (hg19) ; chr1:g.43338637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338637T>C , CM000663.2:g.43338637T>C	GRCh38
NC_000001.10:g.43804308T>C , CM000663.1:g.43804308T>C	GRCh37
NC_000001.9:g.43576895T>C	NCBI36
NG_007525.1:g.5834T>C , LRG_510:g.5834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.308T>C MANE Select	ENSP00000361548.3:p.Leu103Pro
ENST00000413998.7:c.287T>C	ENSP00000414004.3:p.Leu96Pro
ENST00000638732.1:n.308T>C
ENST00000372470.7:c.308T>C	ENSP00000361548.3:p.Leu103Pro
ENST00000413998.6:c.308T>C	ENSP00000414004.2:p.Leu103Pro
ENST00000612993.1:c.308T>C	ENSP00000480273.1:p.Leu103Pro
NM_005373.2:c.308T>C , LRG_510t1:c.308T>C	NP_005364.1:p.Leu103Pro
XM_011541478.1:c.287T>C	XP_011539780.1:p.Leu96Pro
XM_017001320.1:c.479T>C	XP_016856809.1:p.Leu160Pro
NM_005373.3:c.308T>C MANE Select	NP_005364.1:p.Leu103Pro