Canonical Allele Identifier: CA806642

Gene: MPL

Linked Data

• dbSNP Id: rs774581988
• ExAC: 1:43804370 G / C
• gnomAD v2: 1-43804370-G-C
• gnomAD v4: 1-43338699-G-C
• MyVariant Identifiers: chr1:g.43804370G>C (hg19) ; chr1:g.43338699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338699G>C , CM000663.2:g.43338699G>C	GRCh38
NC_000001.10:g.43804370G>C , CM000663.1:g.43804370G>C	GRCh37
NC_000001.9:g.43576957G>C	NCBI36
NG_007525.1:g.5896G>C , LRG_510:g.5896G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.370G>C MANE Select	ENSP00000361548.3:p.Val124Leu
ENST00000413998.7:c.349G>C	ENSP00000414004.3:p.Val117Leu
ENST00000638732.1:n.370G>C
ENST00000372470.7:c.370G>C	ENSP00000361548.3:p.Val124Leu
ENST00000413998.6:c.370G>C	ENSP00000414004.2:p.Val124Leu
ENST00000612993.1:c.370G>C	ENSP00000480273.1:p.Val124Leu
NM_005373.2:c.370G>C , LRG_510t1:c.370G>C	NP_005364.1:p.Val124Leu
XM_011541478.1:c.349G>C	XP_011539780.1:p.Val117Leu
XM_017001320.1:c.541G>C	XP_016856809.1:p.Val181Leu
NM_005373.3:c.370G>C MANE Select	NP_005364.1:p.Val124Leu