Canonical Allele Identifier: CA806646

Gene: MPL

Linked Data

• ClinVar Variation Id: 372409
• ClinVar RCV Id: RCV000414099 ; RCV000825643 ; RCV001042667
• dbSNP Id: rs752453717
• ExAC: 1:43804396 G / C
• gnomAD v2: 1-43804396-G-C
• gnomAD v3: 1-43338725-G-C
• gnomAD v4: 1-43338725-G-C
• MyVariant Identifiers: chr1:g.43804396G>C (hg19) ; chr1:g.43338725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338725G>C , CM000663.2:g.43338725G>C	GRCh38
NC_000001.10:g.43804396G>C , CM000663.1:g.43804396G>C	GRCh37
NC_000001.9:g.43576983G>C	NCBI36
NG_007525.1:g.5922G>C , LRG_510:g.5922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.391+5G>C MANE Select	ENSP00000361548.3:n.391+5G>C
ENST00000413998.7:c.370+5G>C	ENSP00000414004.3:n.370+5G>C
ENST00000638732.1:n.391+5G>C
ENST00000372470.7:c.391+5G>C	ENSP00000361548.3:n.391+5G>C
ENST00000413998.6:c.391+5G>C	ENSP00000414004.2:n.391+5G>C
ENST00000612993.1:c.391+5G>C	ENSP00000480273.1:n.391+5G>C
NM_005373.2:c.391+5G>C , LRG_510t1:c.391+5G>C	NP_005364.1:n.391+5G>C
XM_011541478.1:c.370+5G>C	XP_011539780.1:n.370+5G>C
XM_017001320.1:c.562+5G>C	XP_016856809.1:n.562+5G>C
NM_005373.3:c.391+5G>C MANE Select	NP_005364.1:n.391+5G>C