Canonical Allele Identifier: CA522806062
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1263274189
gnomAD v2: 1-43803626-C-T
gnomAD v4: 1-43337955-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43337955C>T , CM000663.2:g.43337955C>T GRCh38
NC_000001.10:g.43803626C>T , CM000663.1:g.43803626C>T GRCh37
NC_000001.9:g.43576213C>T NCBI36
NG_007525.1:g.5152C>T , LRG_510:g.5152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.79+28C>T MANE Select ENSP00000361548.3:n.79+28C>T
ENST00000413998.7:c.79+28C>T ENSP00000414004.3:n.79+28C>T
ENST00000638732.1:n.79+28C>T
ENST00000372470.7:c.79+28C>T ENSP00000361548.3:n.79+28C>T
ENST00000413998.6:c.79+28C>T ENSP00000414004.2:n.79+28C>T
ENST00000612993.1:c.79+28C>T ENSP00000480273.1:n.79+28C>T
NM_005373.2:c.79+28C>T , LRG_510t1:c.79+28C>T NP_005364.1:n.79+28C>T
XM_011541478.1:c.79+28C>T XP_011539780.1:n.79+28C>T
XM_017001320.1:c.107C>T XP_016856809.1:p.Pro36Leu
NM_005373.3:c.79+28C>T MANE Select NP_005364.1:n.79+28C>T