Canonical Allele Identifier: CA806696

Gene: MPL

Linked Data

• ClinVar Variation Id: 297399
• ClinVar RCV Id: RCV000275711 ; RCV000331889 ; RCV000552215
• dbSNP Id: rs17572791
• ExAC: 1:43805093 T / C
• gnomAD v2: 1-43805093-T-C
• gnomAD v3: 1-43339422-T-C
• gnomAD v4: 1-43339422-T-C
• MyVariant Identifiers: chr1:g.43805093T>C (hg19) ; chr1:g.43339422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43339422T>C , CM000663.2:g.43339422T>C	GRCh38
NC_000001.10:g.43805093T>C , CM000663.1:g.43805093T>C	GRCh37
NC_000001.9:g.43577680T>C	NCBI36
NG_007525.1:g.6619T>C , LRG_510:g.6619T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.543T>C MANE Select	ENSP00000361548.3:p.Gly181=
ENST00000413998.7:c.522T>C	ENSP00000414004.3:p.Gly174=
ENST00000638732.1:n.543T>C
ENST00000372470.7:c.543T>C	ENSP00000361548.3:p.Gly181=
ENST00000413998.6:c.543T>C	ENSP00000414004.2:p.Gly181=
ENST00000612993.1:c.543T>C	ENSP00000480273.1:p.Gly181=
NM_005373.2:c.543T>C , LRG_510t1:c.543T>C	NP_005364.1:p.Gly181=
XM_011541478.1:c.522T>C	XP_011539780.1:p.Gly174=
XM_017001320.1:c.714T>C	XP_016856809.1:p.Gly238=
NM_005373.3:c.543T>C MANE Select	NP_005364.1:p.Gly181=