Canonical Allele Identifier: CA339987744

Gene: MPL

Linked Data

• dbSNP Id: rs1057519752
• gnomAD v2: 1-43814978-A-G
• MyVariant Identifiers: chr1:g.43814978A>G (hg19) ; chr1:g.43349307A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349307A>G , CM000663.2:g.43349307A>G	GRCh38
NC_000001.10:g.43814978A>G , CM000663.1:g.43814978A>G	GRCh37
NC_000001.9:g.43587565A>G	NCBI36
NG_007525.1:g.16504A>G , LRG_510:g.16504A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1513A>G MANE Select	ENSP00000361548.3:p.Ser505Gly
ENST00000413998.7:c.1492A>G	ENSP00000414004.3:p.Ser498Gly
ENST00000638732.1:n.1513A>G
ENST00000643351.1:c.45A>G
ENST00000372470.7:c.1513A>G	ENSP00000361548.3:p.Ser505Gly
ENST00000413998.6:c.1513A>G	ENSP00000414004.2:p.Ser505Gly
ENST00000612993.1:c.1513A>G	ENSP00000480273.1:p.Ser505Gly
NM_005373.2:c.1513A>G , LRG_510t1:c.1513A>G	NP_005364.1:p.Ser505Gly
XM_011541478.1:c.1492A>G	XP_011539780.1:p.Ser498Gly
XM_017001320.1:c.1684A>G	XP_016856809.1:p.Ser562Gly
NM_005373.3:c.1513A>G MANE Select	NP_005364.1:p.Ser505Gly