Canonical Allele Identifier: CA339983899
Community Standard Title: NM_005373.3(MPL):c.1308+2T>G
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43346936T>G , CM000663.2:g.43346936T>G GRCh38
NC_000001.10:g.43812607T>G , CM000663.1:g.43812607T>G GRCh37
NC_000001.9:g.43585194T>G NCBI36
NG_007525.1:g.14133T>G , LRG_510:g.14133T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.1308+2T>G MANE Select NP_005364.1:n.1308+2T>G
ENST00000372470.9:c.1308+2T>G MANE Select ENSP00000361548.3:n.1308+2T>G
NM_005373.2:c.1308+2T>G , LRG_510t1:c.1308+2T>G NP_005364.1:n.1308+2T>G
ENST00000372470.7:c.1308+2T>G ENSP00000361548.3:n.1308+2T>G
ENST00000413998.6:c.1308+2T>G ENSP00000414004.2:n.1308+2T>G
ENST00000413998.7:c.1287+2T>G ENSP00000414004.3:n.1287+2T>G
ENST00000612993.1:c.1308+2T>G ENSP00000480273.1:n.1308+2T>G
ENST00000638732.1:n.1308+2T>G
XM_011541478.1:c.1287+2T>G XP_011539780.1:n.1287+2T>G
XM_017001320.1:c.1479+2T>G XP_016856809.1:n.1479+2T>G