Canonical Allele Identifier: CA806718
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43339580C>T
GRCh37 chr1:g.43805251C>T
gnomAD v2:
1:43805251 C / T
gnomAD v3:
1:43339580 C / T
gnomAD v4:
chr1-43339580-C-T
Joint Max Group AF 0.00009108 (NFE)
Genomes Max Group AF 0.00012399 (NFE)
Exomes Max Group AF 0.00008531 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43339580C>T , CM000663.2:g.43339580C>T GRCh38
NC_000001.10:g.43805251C>T , CM000663.1:g.43805251C>T GRCh37
NC_000001.9:g.43577838C>T NCBI36
NG_007525.1:g.6777C>T , LRG_510:g.6777C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.690+11C>T MANE Select ENSP00000361548.3:n.690+11C>T
ENST00000413998.7:c.669+11C>T ENSP00000414004.3:n.669+11C>T
ENST00000638732.1:n.690+11C>T
ENST00000372470.7:c.690+11C>T ENSP00000361548.3:n.690+11C>T
ENST00000413998.6:c.690+11C>T ENSP00000414004.2:n.690+11C>T
ENST00000612993.1:c.690+11C>T ENSP00000480273.1:n.690+11C>T
NM_005373.2:c.690+11C>T , LRG_510t1:c.690+11C>T NP_005364.1:n.690+11C>T
XM_011541478.1:c.669+11C>T XP_011539780.1:n.669+11C>T
XM_017001320.1:c.861+11C>T XP_016856809.1:n.861+11C>T
NM_005373.3:c.690+11C>T MANE Select NP_005364.1:n.690+11C>T
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