Canonical Allele Identifier: CA339987370

Gene: MPL

Linked Data

• dbSNP Id: rs1296130142
• gnomAD v4: 1-43349268-A-T
• MyVariant Identifiers: chr1:g.43814939A>T (hg19) ; chr1:g.43349268A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349268A>T , CM000663.2:g.43349268A>T	GRCh38
NC_000001.10:g.43814939A>T , CM000663.1:g.43814939A>T	GRCh37
NC_000001.9:g.43587526A>T	NCBI36
NG_007525.1:g.16465A>T , LRG_510:g.16465A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1474A>T MANE Select	ENSP00000361548.3:p.Ile492Phe
ENST00000413998.7:c.1453A>T	ENSP00000414004.3:p.Ile485Phe
ENST00000638732.1:n.1474A>T
ENST00000643351.1:c.6A>T
ENST00000372470.7:c.1474A>T	ENSP00000361548.3:p.Ile492Phe
ENST00000413998.6:c.1474A>T	ENSP00000414004.2:p.Ile492Phe
ENST00000612993.1:c.1474A>T	ENSP00000480273.1:p.Ile492Phe
NM_005373.2:c.1474A>T , LRG_510t1:c.1474A>T	NP_005364.1:p.Ile492Phe
XM_011541478.1:c.1453A>T	XP_011539780.1:p.Ile485Phe
XM_017001320.1:c.1645A>T	XP_016856809.1:p.Ile549Phe
NM_005373.3:c.1474A>T MANE Select	NP_005364.1:p.Ile492Phe