Canonical Allele Identifier: CA339988074

Gene: MPL

Linked Data

• dbSNP Id: rs121913615
• gnomAD v3: 1-43349338-G-A
• gnomAD v4: 1-43349338-G-A
• MyVariant Identifiers: chr1:g.43815009G>A (hg19) ; chr1:g.43349338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349338G>A , CM000663.2:g.43349338G>A	GRCh38
NC_000001.10:g.43815009G>A , CM000663.1:g.43815009G>A	GRCh37
NC_000001.9:g.43587596G>A	NCBI36
NG_007525.1:g.16535G>A , LRG_510:g.16535G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1544G>A MANE Select	ENSP00000361548.3:p.Trp515Ter
ENST00000413998.7:c.1523G>A	ENSP00000414004.3:p.Trp508Ter
ENST00000638732.1:n.1544G>A
ENST00000643351.1:c.76G>A
ENST00000372470.7:c.1544G>A	ENSP00000361548.3:p.Trp515Ter
ENST00000413998.6:c.1544G>A	ENSP00000414004.2:p.Trp515Ter
ENST00000612993.1:c.1544G>A	ENSP00000480273.1:p.Trp515Ter
NM_005373.2:c.1544G>A , LRG_510t1:c.1544G>A	NP_005364.1:p.Trp515Ter
XM_011541478.1:c.1523G>A	XP_011539780.1:p.Trp508Ter
XM_017001320.1:c.1715G>A	XP_016856809.1:p.Trp572Ter
NM_005373.3:c.1544G>A MANE Select	NP_005364.1:p.Trp515Ter