Canonical Allele Identifier: CA21607056

Gene: MPL

Linked Data

• dbSNP Id: rs892163633
• gnomAD v2: 1-43803983-G-GT
• gnomAD v3: 1-43338312-G-GT
• gnomAD v4: 1-43338312-G-GT
• MyVariant Identifiers: chr1:g.43803983_43803984insT (hg19) ; chr1:g.43338312_43338313insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338313dup , CM000663.2:g.43338313dup	GRCh38
NC_000001.10:g.43803984dup , CM000663.1:g.43803984dup	GRCh37
NC_000001.9:g.43576571dup	NCBI36
NG_007525.1:g.5510dup , LRG_510:g.5510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.212+82dup MANE Select	ENSP00000361548.3:n.212+82dup
ENST00000413998.7:c.191+82dup	ENSP00000414004.3:n.191+82dup
ENST00000638732.1:n.212+82dup
ENST00000372470.7:c.212+82dup	ENSP00000361548.3:n.212+82dup
ENST00000413998.6:c.212+82dup	ENSP00000414004.2:n.212+82dup
ENST00000612993.1:c.212+82dup	ENSP00000480273.1:n.212+82dup
NM_005373.2:c.212+82dup , LRG_510t1:c.212+82dup	NP_005364.1:n.212+82dup
XM_011541478.1:c.191+82dup	XP_011539780.1:n.191+82dup
XM_017001320.1:c.383+82dup	XP_016856809.1:n.383+82dup
NM_005373.3:c.212+82dup MANE Select	NP_005364.1:n.212+82dup