Canonical Allele Identifier: CA417417540

Gene: MPL

Linked Data

• gnomAD v4: 1-43338650-G-T
• MyVariant Identifiers: chr1:g.43804321G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338650G>T , CM000663.2:g.43338650G>T	GRCh38
NC_000001.10:g.43804321G>T , CM000663.1:g.43804321G>T	GRCh37
NC_000001.9:g.43576908G>T	NCBI36
NG_007525.1:g.5847G>T , LRG_510:g.5847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.321G>T MANE Select	ENSP00000361548.3:p.Leu107=
ENST00000413998.7:c.300G>T	ENSP00000414004.3:p.Leu100=
ENST00000638732.1:n.321G>T
ENST00000372470.7:c.321G>T	ENSP00000361548.3:p.Leu107=
ENST00000413998.6:c.321G>T	ENSP00000414004.2:p.Leu107=
ENST00000612993.1:c.321G>T	ENSP00000480273.1:p.Leu107=
NM_005373.2:c.321G>T , LRG_510t1:c.321G>T	NP_005364.1:p.Leu107=
XM_011541478.1:c.300G>T	XP_011539780.1:p.Leu100=
XM_017001320.1:c.492G>T	XP_016856809.1:p.Leu164=
NM_005373.3:c.321G>T MANE Select	NP_005364.1:p.Leu107=