Canonical Allele Identifier: CA339974975
Community Standard Title: NM_005373.3(MPL):c.690+2T>C
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43339571T>C , CM000663.2:g.43339571T>C GRCh38
NC_000001.10:g.43805242T>C , CM000663.1:g.43805242T>C GRCh37
NC_000001.9:g.43577829T>C NCBI36
NG_007525.1:g.6768T>C , LRG_510:g.6768T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.690+2T>C MANE Select NP_005364.1:n.690+2T>C
ENST00000372470.9:c.690+2T>C MANE Select ENSP00000361548.3:n.690+2T>C
NM_005373.2:c.690+2T>C , LRG_510t1:c.690+2T>C NP_005364.1:n.690+2T>C
ENST00000372470.7:c.690+2T>C ENSP00000361548.3:n.690+2T>C
ENST00000413998.6:c.690+2T>C ENSP00000414004.2:n.690+2T>C
ENST00000413998.7:c.669+2T>C ENSP00000414004.3:n.669+2T>C
ENST00000612993.1:c.690+2T>C ENSP00000480273.1:n.690+2T>C
ENST00000638732.1:n.690+2T>C
XM_011541478.1:c.669+2T>C XP_011539780.1:n.669+2T>C
XM_017001320.1:c.861+2T>C XP_016856809.1:n.861+2T>C