Canonical Allele Identifier: CA806734

Gene: MPL

Linked Data

• dbSNP Id: rs759557499
• ExAC: 1:43805629 C / T
• gnomAD v2: 1-43805629-C-T
• gnomAD v4: 1-43339958-C-T
• MyVariant Identifiers: chr1:g.43805629C>T (hg19) ; chr1:g.43339958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43339958C>T , CM000663.2:g.43339958C>T	GRCh38
NC_000001.10:g.43805629C>T , CM000663.1:g.43805629C>T	GRCh37
NC_000001.9:g.43578216C>T	NCBI36
NG_007525.1:g.7155C>T , LRG_510:g.7155C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.691-6C>T MANE Select	ENSP00000361548.3:n.691-6C>T
ENST00000413998.7:c.670-6C>T	ENSP00000414004.3:n.670-6C>T
ENST00000638732.1:n.691-6C>T
ENST00000372470.7:c.691-6C>T	ENSP00000361548.3:n.691-6C>T
ENST00000413998.6:c.691-6C>T	ENSP00000414004.2:n.691-6C>T
ENST00000612993.1:c.691-6C>T	ENSP00000480273.1:n.691-6C>T
NM_005373.2:c.691-6C>T , LRG_510t1:c.691-6C>T	NP_005364.1:n.691-6C>T
XM_011541478.1:c.670-6C>T	XP_011539780.1:n.670-6C>T
XM_017001320.1:c.862-6C>T	XP_016856809.1:n.862-6C>T
NM_005373.3:c.691-6C>T MANE Select	NP_005364.1:n.691-6C>T