Canonical Allele Identifier: CA417547138
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs766435865
MyVariant Identifiers: chr1:g.43814983C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43349312C>A , CM000663.2:g.43349312C>A GRCh38
NC_000001.10:g.43814983C>A , CM000663.1:g.43814983C>A GRCh37
NC_000001.9:g.43587570C>A NCBI36
NG_007525.1:g.16509C>A , LRG_510:g.16509C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.1518C>A MANE Select ENSP00000361548.3:p.Ala506=
ENST00000413998.7:c.1497C>A ENSP00000414004.3:p.Ala499=
ENST00000638732.1:n.1518C>A
ENST00000643351.1:c.50C>A
ENST00000372470.7:c.1518C>A ENSP00000361548.3:p.Ala506=
ENST00000413998.6:c.1518C>A ENSP00000414004.2:p.Ala506=
ENST00000612993.1:c.1518C>A ENSP00000480273.1:p.Ala506=
NM_005373.2:c.1518C>A , LRG_510t1:c.1518C>A NP_005364.1:p.Ala506=
XM_011541478.1:c.1497C>A XP_011539780.1:p.Ala499=
XM_017001320.1:c.1689C>A XP_016856809.1:p.Ala563=
NM_005373.3:c.1518C>A MANE Select NP_005364.1:p.Ala506=