Canonical Allele Identifier: CA806924

Gene: MPL

Linked Data

• dbSNP Id: rs770166362
• ExAC: 1:43814969 C / G
• gnomAD v2: 1-43814969-C-G
• gnomAD v3: 1-43349298-C-G
• gnomAD v4: 1-43349298-C-G
• MyVariant Identifiers: chr1:g.43814969C>G (hg19) ; chr1:g.43349298C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349298C>G , CM000663.2:g.43349298C>G	GRCh38
NC_000001.10:g.43814969C>G , CM000663.1:g.43814969C>G	GRCh37
NC_000001.9:g.43587556C>G	NCBI36
NG_007525.1:g.16495C>G , LRG_510:g.16495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1504C>G MANE Select	ENSP00000361548.3:p.Leu502Val
ENST00000413998.7:c.1483C>G	ENSP00000414004.3:p.Leu495Val
ENST00000638732.1:n.1504C>G
ENST00000643351.1:c.36C>G
ENST00000372470.7:c.1504C>G	ENSP00000361548.3:p.Leu502Val
ENST00000413998.6:c.1504C>G	ENSP00000414004.2:p.Leu502Val
ENST00000612993.1:c.1504C>G	ENSP00000480273.1:p.Leu502Val
NM_005373.2:c.1504C>G , LRG_510t1:c.1504C>G	NP_005364.1:p.Leu502Val
XM_011541478.1:c.1483C>G	XP_011539780.1:p.Leu495Val
XM_017001320.1:c.1675C>G	XP_016856809.1:p.Leu559Val
NM_005373.3:c.1504C>G MANE Select	NP_005364.1:p.Leu502Val