Canonical Allele Identifier: CA417547072

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43814962T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349291T>C , CM000663.2:g.43349291T>C	GRCh38
NC_000001.10:g.43814962T>C , CM000663.1:g.43814962T>C	GRCh37
NC_000001.9:g.43587549T>C	NCBI36
NG_007525.1:g.16488T>C , LRG_510:g.16488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1497T>C MANE Select	ENSP00000361548.3:p.His499=
ENST00000413998.7:c.1476T>C	ENSP00000414004.3:p.His492=
ENST00000638732.1:n.1497T>C
ENST00000643351.1:c.29T>C
ENST00000372470.7:c.1497T>C	ENSP00000361548.3:p.His499=
ENST00000413998.6:c.1497T>C	ENSP00000414004.2:p.His499=
ENST00000612993.1:c.1497T>C	ENSP00000480273.1:p.His499=
NM_005373.2:c.1497T>C , LRG_510t1:c.1497T>C	NP_005364.1:p.His499=
XM_011541478.1:c.1476T>C	XP_011539780.1:p.His492=
XM_017001320.1:c.1668T>C	XP_016856809.1:p.His556=
NM_005373.3:c.1497T>C MANE Select	NP_005364.1:p.His499=