Canonical Allele Identifier: CA417416548
Gene: MPL HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43803771T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338100T>C , CM000663.2:g.43338100T>C GRCh38
NC_000001.10:g.43803771T>C , CM000663.1:g.43803771T>C GRCh37
NC_000001.9:g.43576358T>C NCBI36
NG_007525.1:g.5297T>C , LRG_510:g.5297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.81T>C MANE Select ENSP00000361548.3:p.Asp27=
ENST00000413998.7:c.80-20T>C ENSP00000414004.3:n.80-20T>C
ENST00000638732.1:n.81T>C
ENST00000372470.7:c.81T>C ENSP00000361548.3:p.Asp27=
ENST00000413998.6:c.81T>C ENSP00000414004.2:p.Asp27=
ENST00000612993.1:c.81T>C ENSP00000480273.1:p.Asp27=
NM_005373.2:c.81T>C , LRG_510t1:c.81T>C NP_005364.1:p.Asp27=
XM_011541478.1:c.80-20T>C XP_011539780.1:n.80-20T>C
XM_017001320.1:c.252T>C XP_016856809.1:p.Asp84=
NM_005373.3:c.81T>C MANE Select NP_005364.1:p.Asp27=