Canonical Allele Identifier: CA806927

Gene: MPL

Linked Data

• dbSNP Id: rs766435865
• ExAC: 1:43814983 C / T
• gnomAD v2: 1-43814983-C-T
• gnomAD v4: 1-43349312-C-T
• MyVariant Identifiers: chr1:g.43814983C>T (hg19) ; chr1:g.43349312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349312C>T , CM000663.2:g.43349312C>T	GRCh38
NC_000001.10:g.43814983C>T , CM000663.1:g.43814983C>T	GRCh37
NC_000001.9:g.43587570C>T	NCBI36
NG_007525.1:g.16509C>T , LRG_510:g.16509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1518C>T MANE Select	ENSP00000361548.3:p.Ala506=
ENST00000413998.7:c.1497C>T	ENSP00000414004.3:p.Ala499=
ENST00000638732.1:n.1518C>T
ENST00000643351.1:c.50C>T
ENST00000372470.7:c.1518C>T	ENSP00000361548.3:p.Ala506=
ENST00000413998.6:c.1518C>T	ENSP00000414004.2:p.Ala506=
ENST00000612993.1:c.1518C>T	ENSP00000480273.1:p.Ala506=
NM_005373.2:c.1518C>T , LRG_510t1:c.1518C>T	NP_005364.1:p.Ala506=
XM_011541478.1:c.1497C>T	XP_011539780.1:p.Ala499=
XM_017001320.1:c.1689C>T	XP_016856809.1:p.Ala563=
NM_005373.3:c.1518C>T MANE Select	NP_005364.1:p.Ala506=