Canonical Allele Identifier: CA10611257

Gene: MPL

Linked Data

• ClinVar Variation Id: 297415
• ClinVar RCV Id: RCV000294560 ; RCV000351766
• dbSNP Id: rs558390922
• gnomAD v2: 1-43818843-C-T
• gnomAD v3: 1-43353172-C-T
• gnomAD v4: 1-43353172-C-T
• MyVariant Identifiers: chr1:g.43818843C>T (hg19) ; chr1:g.43353172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43353172C>T , CM000663.2:g.43353172C>T	GRCh38
NC_000001.10:g.43818843C>T , CM000663.1:g.43818843C>T	GRCh37
NC_000001.9:g.43591430C>T	NCBI36
NG_007525.1:g.20369C>T , LRG_510:g.20369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.*400C>T MANE Select	ENSP00000361548.3:n.*400C>T
NM_005373.2:c.*400C>T , LRG_510t1:c.*400C>T	NP_005364.1:n.*400C>T
XM_011541478.1:c.*400C>T	XP_011539780.1:n.*400C>T
XM_017001320.1:c.*400C>T	XP_016856809.1:n.*400C>T
NM_005373.3:c.*400C>T MANE Select	NP_005364.1:n.*400C>T