Canonical Allele Identifier: CA21607069

Gene: MPL

Linked Data

• dbSNP Id: rs181772854
• gnomAD v2: 1-43804017-C-T
• gnomAD v3: 1-43338346-C-T
• gnomAD v4: 1-43338346-C-T
• MyVariant Identifiers: chr1:g.43804017C>T (hg19) ; chr1:g.43338346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338346C>T , CM000663.2:g.43338346C>T	GRCh38
NC_000001.10:g.43804017C>T , CM000663.1:g.43804017C>T	GRCh37
NC_000001.9:g.43576604C>T	NCBI36
NG_007525.1:g.5543C>T , LRG_510:g.5543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.212+115C>T MANE Select	ENSP00000361548.3:n.212+115C>T
ENST00000413998.7:c.191+115C>T	ENSP00000414004.3:n.191+115C>T
ENST00000638732.1:n.212+115C>T
ENST00000372470.7:c.212+115C>T	ENSP00000361548.3:n.212+115C>T
ENST00000413998.6:c.212+115C>T	ENSP00000414004.2:n.212+115C>T
ENST00000612993.1:c.212+115C>T	ENSP00000480273.1:n.212+115C>T
NM_005373.2:c.212+115C>T , LRG_510t1:c.212+115C>T	NP_005364.1:n.212+115C>T
XM_011541478.1:c.191+115C>T	XP_011539780.1:n.191+115C>T
XM_017001320.1:c.383+115C>T	XP_016856809.1:n.383+115C>T
NM_005373.3:c.212+115C>T MANE Select	NP_005364.1:n.212+115C>T