Canonical Allele Identifier: CA806639

Gene: MPL

Linked Data

• dbSNP Id: rs778085169
• ExAC: 1:43804354 G / C
• gnomAD v2: 1-43804354-G-C
• gnomAD v3: 1-43338683-G-C
• gnomAD v4: 1-43338683-G-C
• MyVariant Identifiers: chr1:g.43804354G>C (hg19) ; chr1:g.43338683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338683G>C , CM000663.2:g.43338683G>C	GRCh38
NC_000001.10:g.43804354G>C , CM000663.1:g.43804354G>C	GRCh37
NC_000001.9:g.43576941G>C	NCBI36
NG_007525.1:g.5880G>C , LRG_510:g.5880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.354G>C MANE Select	ENSP00000361548.3:p.Gln118His
ENST00000413998.7:c.333G>C	ENSP00000414004.3:p.Gln111His
ENST00000638732.1:n.354G>C
ENST00000372470.7:c.354G>C	ENSP00000361548.3:p.Gln118His
ENST00000413998.6:c.354G>C	ENSP00000414004.2:p.Gln118His
ENST00000612993.1:c.354G>C	ENSP00000480273.1:p.Gln118His
NM_005373.2:c.354G>C , LRG_510t1:c.354G>C	NP_005364.1:p.Gln118His
XM_011541478.1:c.333G>C	XP_011539780.1:p.Gln111His
XM_017001320.1:c.525G>C	XP_016856809.1:p.Gln175His
NM_005373.3:c.354G>C MANE Select	NP_005364.1:p.Gln118His