Canonical Allele Identifier: CA339987356

Gene: MPL

Linked Data

• dbSNP Id: rs1296130142
• gnomAD v2: 1-43814939-A-C
• gnomAD v3: 1-43349268-A-C
• gnomAD v4: 1-43349268-A-C
• MyVariant Identifiers: chr1:g.43814939A>C (hg19) ; chr1:g.43349268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349268A>C , CM000663.2:g.43349268A>C	GRCh38
NC_000001.10:g.43814939A>C , CM000663.1:g.43814939A>C	GRCh37
NC_000001.9:g.43587526A>C	NCBI36
NG_007525.1:g.16465A>C , LRG_510:g.16465A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1474A>C MANE Select	ENSP00000361548.3:p.Ile492Leu
ENST00000413998.7:c.1453A>C	ENSP00000414004.3:p.Ile485Leu
ENST00000638732.1:n.1474A>C
ENST00000643351.1:c.6A>C
ENST00000372470.7:c.1474A>C	ENSP00000361548.3:p.Ile492Leu
ENST00000413998.6:c.1474A>C	ENSP00000414004.2:p.Ile492Leu
ENST00000612993.1:c.1474A>C	ENSP00000480273.1:p.Ile492Leu
NM_005373.2:c.1474A>C , LRG_510t1:c.1474A>C	NP_005364.1:p.Ile492Leu
XM_011541478.1:c.1453A>C	XP_011539780.1:p.Ile485Leu
XM_017001320.1:c.1645A>C	XP_016856809.1:p.Ile549Leu
NM_005373.3:c.1474A>C MANE Select	NP_005364.1:p.Ile492Leu