Canonical Allele Identifier: CA417547068

Gene: MPL

Linked Data

• gnomAD v4: 1-43349288-G-C
• MyVariant Identifiers: chr1:g.43814959G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349288G>C , CM000663.2:g.43349288G>C	GRCh38
NC_000001.10:g.43814959G>C , CM000663.1:g.43814959G>C	GRCh37
NC_000001.9:g.43587546G>C	NCBI36
NG_007525.1:g.16485G>C , LRG_510:g.16485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1494G>C MANE Select	ENSP00000361548.3:p.Leu498=
ENST00000413998.7:c.1473G>C	ENSP00000414004.3:p.Leu491=
ENST00000638732.1:n.1494G>C
ENST00000643351.1:c.26G>C
ENST00000372470.7:c.1494G>C	ENSP00000361548.3:p.Leu498=
ENST00000413998.6:c.1494G>C	ENSP00000414004.2:p.Leu498=
ENST00000612993.1:c.1494G>C	ENSP00000480273.1:p.Leu498=
NM_005373.2:c.1494G>C , LRG_510t1:c.1494G>C	NP_005364.1:p.Leu498=
XM_011541478.1:c.1473G>C	XP_011539780.1:p.Leu491=
XM_017001320.1:c.1665G>C	XP_016856809.1:p.Leu555=
NM_005373.3:c.1494G>C MANE Select	NP_005364.1:p.Leu498=