Canonical Allele Identifier: CA417547040

Gene: MPL

Linked Data

• dbSNP Id: rs2153919397
• gnomAD v4: 1-43349273-C-T
• MyVariant Identifiers: chr1:g.43814944C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349273C>T , CM000663.2:g.43349273C>T	GRCh38
NC_000001.10:g.43814944C>T , CM000663.1:g.43814944C>T	GRCh37
NC_000001.9:g.43587531C>T	NCBI36
NG_007525.1:g.16470C>T , LRG_510:g.16470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1479C>T MANE Select	ENSP00000361548.3:p.Ser493=
ENST00000413998.7:c.1458C>T	ENSP00000414004.3:p.Ser486=
ENST00000638732.1:n.1479C>T
ENST00000643351.1:c.11C>T
ENST00000372470.7:c.1479C>T	ENSP00000361548.3:p.Ser493=
ENST00000413998.6:c.1479C>T	ENSP00000414004.2:p.Ser493=
ENST00000612993.1:c.1479C>T	ENSP00000480273.1:p.Ser493=
NM_005373.2:c.1479C>T , LRG_510t1:c.1479C>T	NP_005364.1:p.Ser493=
XM_011541478.1:c.1458C>T	XP_011539780.1:p.Ser486=
XM_017001320.1:c.1650C>T	XP_016856809.1:p.Ser550=
NM_005373.3:c.1479C>T MANE Select	NP_005364.1:p.Ser493=