Canonical Allele Identifier: CA806932

Gene: MPL

Linked Data

• ClinVar Variation Id: 2318666
• ClinVar RCV Id: RCV002910759
• dbSNP Id: rs763924501
• ExAC: 1:43815027 A / G
• gnomAD v2: 1-43815027-A-G
• gnomAD v4: 1-43349356-A-G
• MyVariant Identifiers: chr1:g.43815027A>G (hg19) ; chr1:g.43349356A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349356A>G , CM000663.2:g.43349356A>G	GRCh38
NC_000001.10:g.43815027A>G , CM000663.1:g.43815027A>G	GRCh37
NC_000001.9:g.43587614A>G	NCBI36
NG_007525.1:g.16553A>G , LRG_510:g.16553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1562A>G MANE Select	ENSP00000361548.3:p.Tyr521Cys
ENST00000413998.7:c.1541A>G	ENSP00000414004.3:p.Tyr514Cys
ENST00000638732.1:n.1562A>G
ENST00000643351.1:c.94A>G
ENST00000372470.7:c.1562A>G	ENSP00000361548.3:p.Tyr521Cys
ENST00000413998.6:c.1562A>G	ENSP00000414004.2:p.Tyr521Cys
ENST00000612993.1:c.1562A>G	ENSP00000480273.1:p.Tyr521Cys
NM_005373.2:c.1562A>G , LRG_510t1:c.1562A>G	NP_005364.1:p.Tyr521Cys
XM_011541478.1:c.1541A>G	XP_011539780.1:p.Tyr514Cys
XM_017001320.1:c.1733A>G	XP_016856809.1:p.Tyr578Cys
NM_005373.3:c.1562A>G MANE Select	NP_005364.1:p.Tyr521Cys