Canonical Allele Identifier: CA806629

Gene: MPL

Linked Data

• dbSNP Id: rs767255141
• ExAC: 1:43804283 T / C
• gnomAD v2: 1-43804283-T-C
• gnomAD v3: 1-43338612-T-C
• gnomAD v4: 1-43338612-T-C
• MyVariant Identifiers: chr1:g.43804283T>C (hg19) ; chr1:g.43338612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338612T>C , CM000663.2:g.43338612T>C	GRCh38
NC_000001.10:g.43804283T>C , CM000663.1:g.43804283T>C	GRCh37
NC_000001.9:g.43576870T>C	NCBI36
NG_007525.1:g.5809T>C , LRG_510:g.5809T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.283T>C MANE Select	ENSP00000361548.3:p.Phe95Leu
ENST00000413998.7:c.262T>C	ENSP00000414004.3:p.Phe88Leu
ENST00000638732.1:n.283T>C
ENST00000372470.7:c.283T>C	ENSP00000361548.3:p.Phe95Leu
ENST00000413998.6:c.283T>C	ENSP00000414004.2:p.Phe95Leu
ENST00000612993.1:c.283T>C	ENSP00000480273.1:p.Phe95Leu
NM_005373.2:c.283T>C , LRG_510t1:c.283T>C	NP_005364.1:p.Phe95Leu
XM_011541478.1:c.262T>C	XP_011539780.1:p.Phe88Leu
XM_017001320.1:c.454T>C	XP_016856809.1:p.Phe152Leu
NM_005373.3:c.283T>C MANE Select	NP_005364.1:p.Phe95Leu