Canonical Allele Identifier: CA339987749

Gene: MPL

Linked Data

• gnomAD v4: 1-43349308-G-T
• MyVariant Identifiers: chr1:g.43814979G>T (hg19) ; chr1:g.43349308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349308G>T , CM000663.2:g.43349308G>T	GRCh38
NC_000001.10:g.43814979G>T , CM000663.1:g.43814979G>T	GRCh37
NC_000001.9:g.43587566G>T	NCBI36
NG_007525.1:g.16505G>T , LRG_510:g.16505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1514G>T MANE Select	ENSP00000361548.3:p.Ser505Ile
ENST00000413998.7:c.1493G>T	ENSP00000414004.3:p.Ser498Ile
ENST00000638732.1:n.1514G>T
ENST00000643351.1:c.46G>T
ENST00000372470.7:c.1514G>T	ENSP00000361548.3:p.Ser505Ile
ENST00000413998.6:c.1514G>T	ENSP00000414004.2:p.Ser505Ile
ENST00000612993.1:c.1514G>T	ENSP00000480273.1:p.Ser505Ile
NM_005373.2:c.1514G>T , LRG_510t1:c.1514G>T	NP_005364.1:p.Ser505Ile
XM_011541478.1:c.1493G>T	XP_011539780.1:p.Ser498Ile
XM_017001320.1:c.1685G>T	XP_016856809.1:p.Ser562Ile
NM_005373.3:c.1514G>T MANE Select	NP_005364.1:p.Ser505Ile